SNP Links for Protein (Select 768013477) - SNP

Links from Protein

Items: 1 to 20 of 59

<< First< Prev

Page of 3

Next >Last >>

Select item 14527923191.

rs1452792319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5772959 (GRCh38)
20:5753605 (GRCh37)
Canonical SPDI:: NC_000020.11:5772958:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5772959C>T, NC_000020.10:g.5753605C>T, XM_011529181.4:c.94C>T, XM_011529181.3:c.94C>T, XM_011529181.2:c.94C>T, XM_011529181.1:c.94C>T, NM_152504.4:c.94C>T, NM_152504.3:c.94C>T, NM_152504.2:c.94C>T, XM_011529177.3:c.133C>T, XM_011529177.2:c.133C>T, XM_011529177.1:c.133C>T, XM_011529182.3:c.133C>T, XM_011529182.2:c.133C>T, XM_011529182.1:c.133C>T, XM_011529178.3:c.133C>T, XM_011529178.2:c.133C>T, XM_011529178.1:c.133C>T, XM_011529180.3:c.133C>T, XM_011529180.2:c.133C>T, XM_011529180.1:c.133C>T, NM_001303477.2:c.94C>T, NM_001303477.1:c.94C>T, NM_001303478.2:c.-73C>T, NM_001303478.1:c.-73C>T, NM_001303479.2:c.94C>T, NM_001303479.1:c.94C>T, XM_047439931.1:c.301C>T, XP_011527483.1:p.Gln32Ter, NP_689717.2:p.Gln32Ter, XP_011527479.1:p.Gln45Ter, XP_011527484.1:p.Gln45Ter, XP_011527480.1:p.Gln45Ter, XP_011527482.1:p.Gln45Ter, NP_001290406.1:p.Gln32Ter, NP_001290408.1:p.Gln32Ter, XP_047295887.1:p.Gln101Ter

Select item 14330315072.

rs1433031507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5772980 (GRCh38)
20:5753626 (GRCh37)
Canonical SPDI:: NC_000020.11:5772979:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5772980A>G, NC_000020.10:g.5753626A>G, XM_011529181.4:c.115A>G, XM_011529181.3:c.115A>G, XM_011529181.2:c.115A>G, XM_011529181.1:c.115A>G, NM_152504.4:c.115A>G, NM_152504.3:c.115A>G, NM_152504.2:c.115A>G, XM_011529177.3:c.154A>G, XM_011529177.2:c.154A>G, XM_011529177.1:c.154A>G, XM_011529182.3:c.154A>G, XM_011529182.2:c.154A>G, XM_011529182.1:c.154A>G, XM_011529178.3:c.154A>G, XM_011529178.2:c.154A>G, XM_011529178.1:c.154A>G, XM_011529180.3:c.154A>G, XM_011529180.2:c.154A>G, XM_011529180.1:c.154A>G, NM_001303477.2:c.115A>G, NM_001303477.1:c.115A>G, NM_001303478.2:c.-52A>G, NM_001303478.1:c.-52A>G, NM_001303479.2:c.115A>G, NM_001303479.1:c.115A>G, XM_047439931.1:c.322A>G, XP_011527483.1:p.Asn39Asp, NP_689717.2:p.Asn39Asp, XP_011527479.1:p.Asn52Asp, XP_011527484.1:p.Asn52Asp, XP_011527480.1:p.Asn52Asp, XP_011527482.1:p.Asn52Asp, NP_001290406.1:p.Asn39Asp, NP_001290408.1:p.Asn39Asp, XP_047295887.1:p.Asn108Asp

Select item 14202245163.

rs1420224516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:5773134 (GRCh38)
20:5753780 (GRCh37)
Canonical SPDI:: NC_000020.11:5773133:G:C
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5773134G>C, NC_000020.10:g.5753780G>C, XM_011529180.3:c.220G>C, XM_011529180.2:c.220G>C, XM_011529180.1:c.220G>C, NM_001303479.2:c.181G>C, NM_001303479.1:c.181G>C, XP_011527482.1:p.Asp74His, NP_001290408.1:p.Asp61His

Select item 13927210424.

rs1392721042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5772986 (GRCh38)
20:5753632 (GRCh37)
Canonical SPDI:: NC_000020.11:5772985:G:A
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.5772986G>A, NC_000020.10:g.5753632G>A, XM_011529181.4:c.121G>A, XM_011529181.3:c.121G>A, XM_011529181.2:c.121G>A, XM_011529181.1:c.121G>A, NM_152504.4:c.121G>A, NM_152504.3:c.121G>A, NM_152504.2:c.121G>A, XM_011529177.3:c.160G>A, XM_011529177.2:c.160G>A, XM_011529177.1:c.160G>A, XM_011529182.3:c.160G>A, XM_011529182.2:c.160G>A, XM_011529182.1:c.160G>A, XM_011529178.3:c.160G>A, XM_011529178.2:c.160G>A, XM_011529178.1:c.160G>A, XM_011529180.3:c.160G>A, XM_011529180.2:c.160G>A, XM_011529180.1:c.160G>A, NM_001303477.2:c.121G>A, NM_001303477.1:c.121G>A, NM_001303478.2:c.-46G>A, NM_001303478.1:c.-46G>A, NM_001303479.2:c.121G>A, NM_001303479.1:c.121G>A, XM_047439931.1:c.328G>A, XP_011527483.1:p.Glu41Lys, NP_689717.2:p.Glu41Lys, XP_011527479.1:p.Glu54Lys, XP_011527484.1:p.Glu54Lys, XP_011527480.1:p.Glu54Lys, XP_011527482.1:p.Glu54Lys, NP_001290406.1:p.Glu41Lys, NP_001290408.1:p.Glu41Lys, XP_047295887.1:p.Glu110Lys

Select item 13826566805.

rs1382656680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:5772865 (GRCh38)
20:5753511 (GRCh37)
Canonical SPDI:: NC_000020.11:5772864:T:A
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.5772865T>A, NC_000020.10:g.5753511T>A, XM_011529181.4:c.-1T>A, XM_011529181.3:c.-1T>A, XM_011529181.2:c.-1T>A, XM_011529181.1:c.-1T>A, NM_152504.4:c.-1T>A, NM_152504.3:c.-1T>A, NM_152504.2:c.-1T>A, XM_011529177.3:c.39T>A, XM_011529177.2:c.39T>A, XM_011529177.1:c.39T>A, XM_011529182.3:c.39T>A, XM_011529182.2:c.39T>A, XM_011529182.1:c.39T>A, XM_011529178.3:c.39T>A, XM_011529178.2:c.39T>A, XM_011529178.1:c.39T>A, XM_011529180.3:c.39T>A, XM_011529180.2:c.39T>A, XM_011529180.1:c.39T>A, NM_001303477.2:c.-1T>A, NM_001303477.1:c.-1T>A, NM_001303478.2:c.-167T>A, NM_001303478.1:c.-167T>A, NM_001303479.2:c.-1T>A, NM_001303479.1:c.-1T>A, XM_047439931.1:c.207T>A

Select item 13342844716.

rs1334284471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5772995 (GRCh38)
20:5753641 (GRCh37)
Canonical SPDI:: NC_000020.11:5772994:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5772995A>G, NC_000020.10:g.5753641A>G, XM_011529181.4:c.130A>G, XM_011529181.3:c.130A>G, XM_011529181.2:c.130A>G, XM_011529181.1:c.130A>G, NM_152504.4:c.130A>G, NM_152504.3:c.130A>G, NM_152504.2:c.130A>G, XM_011529177.3:c.169A>G, XM_011529177.2:c.169A>G, XM_011529177.1:c.169A>G, XM_011529182.3:c.169A>G, XM_011529182.2:c.169A>G, XM_011529182.1:c.169A>G, XM_011529178.3:c.169A>G, XM_011529178.2:c.169A>G, XM_011529178.1:c.169A>G, XM_011529180.3:c.169A>G, XM_011529180.2:c.169A>G, XM_011529180.1:c.169A>G, NM_001303477.2:c.130A>G, NM_001303477.1:c.130A>G, NM_001303478.2:c.-37A>G, NM_001303478.1:c.-37A>G, NM_001303479.2:c.130A>G, NM_001303479.1:c.130A>G, XM_047439931.1:c.337A>G, XP_011527483.1:p.Ser44Gly, NP_689717.2:p.Ser44Gly, XP_011527479.1:p.Ser57Gly, XP_011527484.1:p.Ser57Gly, XP_011527480.1:p.Ser57Gly, XP_011527482.1:p.Ser57Gly, NP_001290406.1:p.Ser44Gly, NP_001290408.1:p.Ser44Gly, XP_047295887.1:p.Ser113Gly

Select item 13267734247.

rs1326773424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5772870 (GRCh38)
20:5753516 (GRCh37)
Canonical SPDI:: NC_000020.11:5772869:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.5772870C>T, NC_000020.10:g.5753516C>T, XM_011529181.4:c.5C>T, XM_011529181.3:c.5C>T, XM_011529181.2:c.5C>T, XM_011529181.1:c.5C>T, NM_152504.4:c.5C>T, NM_152504.3:c.5C>T, NM_152504.2:c.5C>T, XM_011529177.3:c.44C>T, XM_011529177.2:c.44C>T, XM_011529177.1:c.44C>T, XM_011529182.3:c.44C>T, XM_011529182.2:c.44C>T, XM_011529182.1:c.44C>T, XM_011529178.3:c.44C>T, XM_011529178.2:c.44C>T, XM_011529178.1:c.44C>T, XM_011529180.3:c.44C>T, XM_011529180.2:c.44C>T, XM_011529180.1:c.44C>T, NM_001303477.2:c.5C>T, NM_001303477.1:c.5C>T, NM_001303478.2:c.-162C>T, NM_001303478.1:c.-162C>T, NM_001303479.2:c.5C>T, NM_001303479.1:c.5C>T, XM_047439931.1:c.212C>T, XP_011527483.1:p.Ala2Val, NP_689717.2:p.Ala2Val, XP_011527479.1:p.Ala15Val, XP_011527484.1:p.Ala15Val, XP_011527480.1:p.Ala15Val, XP_011527482.1:p.Ala15Val, NP_001290406.1:p.Ala2Val, NP_001290408.1:p.Ala2Val, XP_047295887.1:p.Ala71Val

Select item 13232097998.

rs1323209799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5773020 (GRCh38)
20:5753666 (GRCh37)
Canonical SPDI:: NC_000020.11:5773019:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.5773020C>T, NC_000020.10:g.5753666C>T, XM_011529181.4:c.155C>T, XM_011529181.3:c.155C>T, XM_011529181.2:c.155C>T, XM_011529181.1:c.155C>T, NM_152504.4:c.155C>T, NM_152504.3:c.155C>T, NM_152504.2:c.155C>T, XM_011529177.3:c.194C>T, XM_011529177.2:c.194C>T, XM_011529177.1:c.194C>T, XM_011529182.3:c.194C>T, XM_011529182.2:c.194C>T, XM_011529182.1:c.194C>T, XM_011529178.3:c.194C>T, XM_011529178.2:c.194C>T, XM_011529178.1:c.194C>T, XM_011529180.3:c.194C>T, XM_011529180.2:c.194C>T, XM_011529180.1:c.194C>T, NM_001303477.2:c.155C>T, NM_001303477.1:c.155C>T, NM_001303478.2:c.-12C>T, NM_001303478.1:c.-12C>T, NM_001303479.2:c.155C>T, NM_001303479.1:c.155C>T, XM_047439931.1:c.362C>T, XP_011527483.1:p.Pro52Leu, NP_689717.2:p.Pro52Leu, XP_011527479.1:p.Pro65Leu, XP_011527484.1:p.Pro65Leu, XP_011527480.1:p.Pro65Leu, XP_011527482.1:p.Pro65Leu, NP_001290406.1:p.Pro52Leu, NP_001290408.1:p.Pro52Leu, XP_047295887.1:p.Pro121Leu

Select item 13181251839.

rs1318125183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:5750396 (GRCh38)
20:5731042 (GRCh37)
Canonical SPDI:: NC_000020.11:5750395:T:A,NC_000020.11:5750395:T:C
Gene:: SHLD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.5750396T>A, NC_000020.11:g.5750396T>C, NC_000020.10:g.5731042T>A, NC_000020.10:g.5731042T>C, XM_011529177.3:c.15T>A, XM_011529177.3:c.15T>C, XM_011529177.2:c.15T>A, XM_011529177.2:c.15T>C, XM_011529177.1:c.15T>A, XM_011529177.1:c.15T>C, NM_152504.3:c.-88T>A, NM_152504.3:c.-88T>C, XM_011529182.3:c.15T>A, XM_011529182.3:c.15T>C, XM_011529182.2:c.15T>A, XM_011529182.2:c.15T>C, XM_011529182.1:c.15T>A, XM_011529182.1:c.15T>C, XM_011529178.3:c.15T>A, XM_011529178.3:c.15T>C, XM_011529178.2:c.15T>A, XM_011529178.2:c.15T>C, XM_011529178.1:c.15T>A, XM_011529178.1:c.15T>C, XM_011529180.3:c.15T>A, XM_011529180.3:c.15T>C, XM_011529180.2:c.15T>A, XM_011529180.2:c.15T>C, XM_011529180.1:c.15T>A, XM_011529180.1:c.15T>C, NM_001303477.1:c.-179T>A, NM_001303477.1:c.-179T>C, NM_001303478.1:c.-254T>A, NM_001303478.1:c.-254T>C, NM_001303479.1:c.-88T>A, NM_001303479.1:c.-88T>C

Select item 129970926710.

rs1299709267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5772976 (GRCh38)
20:5753622 (GRCh37)
Canonical SPDI:: NC_000020.11:5772975:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5772976A>G, NC_000020.10:g.5753622A>G, XM_011529181.4:c.111A>G, XM_011529181.3:c.111A>G, XM_011529181.2:c.111A>G, XM_011529181.1:c.111A>G, NM_152504.4:c.111A>G, NM_152504.3:c.111A>G, NM_152504.2:c.111A>G, XM_011529177.3:c.150A>G, XM_011529177.2:c.150A>G, XM_011529177.1:c.150A>G, XM_011529182.3:c.150A>G, XM_011529182.2:c.150A>G, XM_011529182.1:c.150A>G, XM_011529178.3:c.150A>G, XM_011529178.2:c.150A>G, XM_011529178.1:c.150A>G, XM_011529180.3:c.150A>G, XM_011529180.2:c.150A>G, XM_011529180.1:c.150A>G, NM_001303477.2:c.111A>G, NM_001303477.1:c.111A>G, NM_001303478.2:c.-56A>G, NM_001303478.1:c.-56A>G, NM_001303479.2:c.111A>G, NM_001303479.1:c.111A>G, XM_047439931.1:c.318A>G

Select item 129046446811.

rs1290464468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5772862 (GRCh38)
20:5753508 (GRCh37)
Canonical SPDI:: NC_000020.11:5772861:G:A
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5772862G>A, NC_000020.10:g.5753508G>A, XM_011529181.4:c.-4G>A, XM_011529181.3:c.-4G>A, XM_011529181.2:c.-4G>A, XM_011529181.1:c.-4G>A, NM_152504.4:c.-4G>A, NM_152504.3:c.-4G>A, NM_152504.2:c.-4G>A, XM_011529177.3:c.36G>A, XM_011529177.2:c.36G>A, XM_011529177.1:c.36G>A, XM_011529182.3:c.36G>A, XM_011529182.2:c.36G>A, XM_011529182.1:c.36G>A, XM_011529178.3:c.36G>A, XM_011529178.2:c.36G>A, XM_011529178.1:c.36G>A, XM_011529180.3:c.36G>A, XM_011529180.2:c.36G>A, XM_011529180.1:c.36G>A, NM_001303477.2:c.-4G>A, NM_001303477.1:c.-4G>A, NM_001303478.2:c.-170G>A, NM_001303478.1:c.-170G>A, NM_001303479.2:c.-4G>A, NM_001303479.1:c.-4G>A, XM_047439931.1:c.204G>A, XP_011527479.1:p.Trp12Ter, XP_011527484.1:p.Trp12Ter, XP_011527480.1:p.Trp12Ter, XP_011527482.1:p.Trp12Ter, XP_047295887.1:p.Met68Ile

Select item 129020587712.

rs1290205877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:5772869 (GRCh38)
20:5753515 (GRCh37)
Canonical SPDI:: NC_000020.11:5772868:G:T
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.5772869G>T, NC_000020.10:g.5753515G>T, XM_011529181.4:c.4G>T, XM_011529181.3:c.4G>T, XM_011529181.2:c.4G>T, XM_011529181.1:c.4G>T, NM_152504.4:c.4G>T, NM_152504.3:c.4G>T, NM_152504.2:c.4G>T, XM_011529177.3:c.43G>T, XM_011529177.2:c.43G>T, XM_011529177.1:c.43G>T, XM_011529182.3:c.43G>T, XM_011529182.2:c.43G>T, XM_011529182.1:c.43G>T, XM_011529178.3:c.43G>T, XM_011529178.2:c.43G>T, XM_011529178.1:c.43G>T, XM_011529180.3:c.43G>T, XM_011529180.2:c.43G>T, XM_011529180.1:c.43G>T, NM_001303477.2:c.4G>T, NM_001303477.1:c.4G>T, NM_001303478.2:c.-163G>T, NM_001303478.1:c.-163G>T, NM_001303479.2:c.4G>T, NM_001303479.1:c.4G>T, XM_047439931.1:c.211G>T, XP_011527483.1:p.Ala2Ser, NP_689717.2:p.Ala2Ser, XP_011527479.1:p.Ala15Ser, XP_011527484.1:p.Ala15Ser, XP_011527480.1:p.Ala15Ser, XP_011527482.1:p.Ala15Ser, NP_001290406.1:p.Ala2Ser, NP_001290408.1:p.Ala2Ser, XP_047295887.1:p.Ala71Ser

Select item 127258760913.

rs1272587609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5773022 (GRCh38)
20:5753668 (GRCh37)
Canonical SPDI:: NC_000020.11:5773021:T:C
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5773022T>C, NC_000020.10:g.5753668T>C, XM_011529181.4:c.157T>C, XM_011529181.3:c.157T>C, XM_011529181.2:c.157T>C, XM_011529181.1:c.157T>C, NM_152504.4:c.157T>C, NM_152504.3:c.157T>C, NM_152504.2:c.157T>C, XM_011529177.3:c.196T>C, XM_011529177.2:c.196T>C, XM_011529177.1:c.196T>C, XM_011529182.3:c.196T>C, XM_011529182.2:c.196T>C, XM_011529182.1:c.196T>C, XM_011529178.3:c.196T>C, XM_011529178.2:c.196T>C, XM_011529178.1:c.196T>C, XM_011529180.3:c.196T>C, XM_011529180.2:c.196T>C, XM_011529180.1:c.196T>C, NM_001303477.2:c.157T>C, NM_001303477.1:c.157T>C, NM_001303478.2:c.-10T>C, NM_001303478.1:c.-10T>C, NM_001303479.2:c.157T>C, NM_001303479.1:c.157T>C, XM_047439931.1:c.364T>C, XP_011527483.1:p.Tyr53His, NP_689717.2:p.Tyr53His, XP_011527479.1:p.Tyr66His, XP_011527484.1:p.Tyr66His, XP_011527480.1:p.Tyr66His, XP_011527482.1:p.Tyr66His, NP_001290406.1:p.Tyr53His, NP_001290408.1:p.Tyr53His, XP_047295887.1:p.Tyr122His

Select item 126282047214.

rs1262820472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5772910 (GRCh38)
20:5753556 (GRCh37)
Canonical SPDI:: NC_000020.11:5772909:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5772910C>T, NC_000020.10:g.5753556C>T, XM_011529181.4:c.45C>T, XM_011529181.3:c.45C>T, XM_011529181.2:c.45C>T, XM_011529181.1:c.45C>T, NM_152504.4:c.45C>T, NM_152504.3:c.45C>T, NM_152504.2:c.45C>T, XM_011529177.3:c.84C>T, XM_011529177.2:c.84C>T, XM_011529177.1:c.84C>T, XM_011529182.3:c.84C>T, XM_011529182.2:c.84C>T, XM_011529182.1:c.84C>T, XM_011529178.3:c.84C>T, XM_011529178.2:c.84C>T, XM_011529178.1:c.84C>T, XM_011529180.3:c.84C>T, XM_011529180.2:c.84C>T, XM_011529180.1:c.84C>T, NM_001303477.2:c.45C>T, NM_001303477.1:c.45C>T, NM_001303478.2:c.-122C>T, NM_001303478.1:c.-122C>T, NM_001303479.2:c.45C>T, NM_001303479.1:c.45C>T, XM_047439931.1:c.252C>T

Select item 123092334515.

rs1230923345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5750405 (GRCh38)
20:5731051 (GRCh37)
Canonical SPDI:: NC_000020.11:5750404:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.5750405C>T, NC_000020.10:g.5731051C>T, XM_011529181.4:c.-79C>T, XM_011529181.2:c.-79C>T, NM_152504.4:c.-79C>T, NM_152504.3:c.-79C>T, NM_152504.2:c.-79C>T, XM_011529177.3:c.24C>T, XM_011529177.2:c.24C>T, XM_011529177.1:c.24C>T, XM_011529182.3:c.24C>T, XM_011529182.2:c.24C>T, XM_011529182.1:c.24C>T, XM_011529178.3:c.24C>T, XM_011529178.2:c.24C>T, XM_011529178.1:c.24C>T, XM_011529180.3:c.24C>T, XM_011529180.2:c.24C>T, XM_011529180.1:c.24C>T, NM_001303477.2:c.-170C>T, NM_001303477.1:c.-170C>T, NM_001303478.2:c.-245C>T, NM_001303478.1:c.-245C>T, NM_001303479.2:c.-79C>T, NM_001303479.1:c.-79C>T, XM_047439931.1:c.-9C>T

Select item 121548367716.

rs1215483677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:5750395 (GRCh38)
20:5731041 (GRCh37)
Canonical SPDI:: NC_000020.11:5750394:T:G
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.5750395T>G, NC_000020.10:g.5731041T>G, XM_011529177.3:c.14T>G, XM_011529177.2:c.14T>G, XM_011529177.1:c.14T>G, NM_152504.3:c.-89T>G, XM_011529182.3:c.14T>G, XM_011529182.2:c.14T>G, XM_011529182.1:c.14T>G, XM_011529178.3:c.14T>G, XM_011529178.2:c.14T>G, XM_011529178.1:c.14T>G, XM_011529180.3:c.14T>G, XM_011529180.2:c.14T>G, XM_011529180.1:c.14T>G, NM_001303477.1:c.-180T>G, NM_001303478.1:c.-255T>G, NM_001303479.1:c.-89T>G, XP_011527479.1:p.Leu5Arg, XP_011527484.1:p.Leu5Arg, XP_011527480.1:p.Leu5Arg, XP_011527482.1:p.Leu5Arg

Select item 121005384817.

rs1210053848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5772945 (GRCh38)
20:5753591 (GRCh37)
Canonical SPDI:: NC_000020.11:5772944:G:A
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5772945G>A, NC_000020.10:g.5753591G>A, XM_011529181.4:c.80G>A, XM_011529181.3:c.80G>A, XM_011529181.2:c.80G>A, XM_011529181.1:c.80G>A, NM_152504.4:c.80G>A, NM_152504.3:c.80G>A, NM_152504.2:c.80G>A, XM_011529177.3:c.119G>A, XM_011529177.2:c.119G>A, XM_011529177.1:c.119G>A, XM_011529182.3:c.119G>A, XM_011529182.2:c.119G>A, XM_011529182.1:c.119G>A, XM_011529178.3:c.119G>A, XM_011529178.2:c.119G>A, XM_011529178.1:c.119G>A, XM_011529180.3:c.119G>A, XM_011529180.2:c.119G>A, XM_011529180.1:c.119G>A, NM_001303477.2:c.80G>A, NM_001303477.1:c.80G>A, NM_001303478.2:c.-87G>A, NM_001303478.1:c.-87G>A, NM_001303479.2:c.80G>A, NM_001303479.1:c.80G>A, XM_047439931.1:c.287G>A, XP_011527483.1:p.Arg27Lys, NP_689717.2:p.Arg27Lys, XP_011527479.1:p.Arg40Lys, XP_011527484.1:p.Arg40Lys, XP_011527480.1:p.Arg40Lys, XP_011527482.1:p.Arg40Lys, NP_001290406.1:p.Arg27Lys, NP_001290408.1:p.Arg27Lys, XP_047295887.1:p.Arg96Lys

Select item 119189432218.

rs1191894322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5772950 (GRCh38)
20:5753596 (GRCh37)
Canonical SPDI:: NC_000020.11:5772949:T:C
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5772950T>C, NC_000020.10:g.5753596T>C, XM_011529181.4:c.85T>C, XM_011529181.3:c.85T>C, XM_011529181.2:c.85T>C, XM_011529181.1:c.85T>C, NM_152504.4:c.85T>C, NM_152504.3:c.85T>C, NM_152504.2:c.85T>C, XM_011529177.3:c.124T>C, XM_011529177.2:c.124T>C, XM_011529177.1:c.124T>C, XM_011529182.3:c.124T>C, XM_011529182.2:c.124T>C, XM_011529182.1:c.124T>C, XM_011529178.3:c.124T>C, XM_011529178.2:c.124T>C, XM_011529178.1:c.124T>C, XM_011529180.3:c.124T>C, XM_011529180.2:c.124T>C, XM_011529180.1:c.124T>C, NM_001303477.2:c.85T>C, NM_001303477.1:c.85T>C, NM_001303478.2:c.-82T>C, NM_001303478.1:c.-82T>C, NM_001303479.2:c.85T>C, NM_001303479.1:c.85T>C, XM_047439931.1:c.292T>C, XP_011527483.1:p.Tyr29His, NP_689717.2:p.Tyr29His, XP_011527479.1:p.Tyr42His, XP_011527484.1:p.Tyr42His, XP_011527480.1:p.Tyr42His, XP_011527482.1:p.Tyr42His, NP_001290406.1:p.Tyr29His, NP_001290408.1:p.Tyr29His, XP_047295887.1:p.Tyr98His

Select item 116896749019.

rs1168967490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:5750415 (GRCh38)
20:5731061 (GRCh37)
Canonical SPDI:: NC_000020.11:5750414:T:A
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,initiator_codon_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000020.11:g.5750415T>A, NC_000020.10:g.5731061T>A, XM_011529181.4:c.-69T>A, XM_011529181.2:c.-69T>A, NM_152504.4:c.-69T>A, NM_152504.3:c.-69T>A, NM_152504.2:c.-69T>A, XM_011529177.3:c.34T>A, XM_011529177.2:c.34T>A, XM_011529177.1:c.34T>A, XM_011529182.3:c.34T>A, XM_011529182.2:c.34T>A, XM_011529182.1:c.34T>A, XM_011529178.3:c.34T>A, XM_011529178.2:c.34T>A, XM_011529178.1:c.34T>A, XM_011529180.3:c.34T>A, XM_011529180.2:c.34T>A, XM_011529180.1:c.34T>A, NM_001303477.2:c.-160T>A, NM_001303477.1:c.-160T>A, NM_001303478.2:c.-235T>A, NM_001303478.1:c.-235T>A, NM_001303479.2:c.-69T>A, NM_001303479.1:c.-69T>A, XM_047439931.1:c.2T>A, XP_011527479.1:p.Trp12Arg, XP_011527484.1:p.Trp12Arg, XP_011527480.1:p.Trp12Arg, XP_011527482.1:p.Trp12Arg, XP_047295887.1:p.Met1Lys

Select item 116376457620.

rs1163764576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:5772966 (GRCh38)
20:5753612 (GRCh37)
Canonical SPDI:: NC_000020.11:5772965:C:A,NC_000020.11:5772965:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5772966C>A, NC_000020.11:g.5772966C>T, NC_000020.10:g.5753612C>A, NC_000020.10:g.5753612C>T, XM_011529181.4:c.101C>A, XM_011529181.4:c.101C>T, XM_011529181.3:c.101C>A, XM_011529181.3:c.101C>T, XM_011529181.2:c.101C>A, XM_011529181.2:c.101C>T, XM_011529181.1:c.101C>A, XM_011529181.1:c.101C>T, NM_152504.4:c.101C>A, NM_152504.4:c.101C>T, NM_152504.3:c.101C>A, NM_152504.3:c.101C>T, NM_152504.2:c.101C>A, NM_152504.2:c.101C>T, XM_011529177.3:c.140C>A, XM_011529177.3:c.140C>T, XM_011529177.2:c.140C>A, XM_011529177.2:c.140C>T, XM_011529177.1:c.140C>A, XM_011529177.1:c.140C>T, XM_011529182.3:c.140C>A, XM_011529182.3:c.140C>T, XM_011529182.2:c.140C>A, XM_011529182.2:c.140C>T, XM_011529182.1:c.140C>A, XM_011529182.1:c.140C>T, XM_011529178.3:c.140C>A, XM_011529178.3:c.140C>T, XM_011529178.2:c.140C>A, XM_011529178.2:c.140C>T, XM_011529178.1:c.140C>A, XM_011529178.1:c.140C>T, XM_011529180.3:c.140C>A, XM_011529180.3:c.140C>T, XM_011529180.2:c.140C>A, XM_011529180.2:c.140C>T, XM_011529180.1:c.140C>A, XM_011529180.1:c.140C>T, NM_001303477.2:c.101C>A, NM_001303477.2:c.101C>T, NM_001303477.1:c.101C>A, NM_001303477.1:c.101C>T, NM_001303478.2:c.-66C>A, NM_001303478.2:c.-66C>T, NM_001303478.1:c.-66C>A, NM_001303478.1:c.-66C>T, NM_001303479.2:c.101C>A, NM_001303479.2:c.101C>T, NM_001303479.1:c.101C>A, NM_001303479.1:c.101C>T, XM_047439931.1:c.308C>A, XM_047439931.1:c.308C>T, XP_011527483.1:p.Pro34His, XP_011527483.1:p.Pro34Leu, NP_689717.2:p.Pro34His, NP_689717.2:p.Pro34Leu, XP_011527479.1:p.Pro47His, XP_011527479.1:p.Pro47Leu, XP_011527484.1:p.Pro47His, XP_011527484.1:p.Pro47Leu, XP_011527480.1:p.Pro47His, XP_011527480.1:p.Pro47Leu, XP_011527482.1:p.Pro47His, XP_011527482.1:p.Pro47Leu, NP_001290406.1:p.Pro34His, NP_001290406.1:p.Pro34Leu, NP_001290408.1:p.Pro34His, NP_001290408.1:p.Pro34Leu, XP_047295887.1:p.Pro103His, XP_047295887.1:p.Pro103Leu

<< First< Prev

Page of 3

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 59

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity