SNP Links for Protein (Select 10280622) - SNP

Links from Protein

Items: 1 to 20 of 637

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Select item 14894314871.

rs1489431487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103573177 (GRCh38)
1:104115799 (GRCh37)
Canonical SPDI:: NC_000001.11:103573176:G:A
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103573177G>A, NC_000001.10:g.104115799G>A, NM_020978.4:c.430G>A, NM_001386109.1:c.430G>A, NM_001387437.1:c.430G>A, NP_066188.1:p.Val144Ile, NP_001373038.1:p.Val144Ile, NP_001374366.1:p.Val144Ile

Select item 14891623482.

rs1489162348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:103575256 (GRCh38)
1:104117878 (GRCh37)
Canonical SPDI:: NC_000001.11:103575255:T:G
Gene:: AMY2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.103575256T>G, NC_000001.10:g.104117878T>G, NM_020978.4:c.912T>G, NM_001386109.1:c.912T>G, NM_001387437.1:c.912T>G

Select item 14890720953.

rs1489072095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:103573864 (GRCh38)
1:104116486 (GRCh37)
Canonical SPDI:: NC_000001.11:103573863:G:T
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.103573864G>T, NC_000001.10:g.104116486G>T, NM_020978.4:c.670G>T, NM_001386109.1:c.670G>T, NM_001387437.1:c.670G>T, NP_066188.1:p.Ala224Ser, NP_001373038.1:p.Ala224Ser, NP_001374366.1:p.Ala224Ser

Select item 14889570304.

rs1488957030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:103575306 (GRCh38)
1:104117928 (GRCh37)
Canonical SPDI:: NC_000001.11:103575305:G:A,NC_000001.11:103575305:G:T
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103575306G>A, NC_000001.11:g.103575306G>T, NC_000001.10:g.104117928G>A, NC_000001.10:g.104117928G>T, NM_020978.4:c.962G>A, NM_020978.4:c.962G>T, NM_001386109.1:c.962G>A, NM_001386109.1:c.962G>T, NM_001387437.1:c.962G>A, NM_001387437.1:c.962G>T, NP_066188.1:p.Gly321Glu, NP_066188.1:p.Gly321Val, NP_001373038.1:p.Gly321Glu, NP_001373038.1:p.Gly321Val, NP_001374366.1:p.Gly321Glu, NP_001374366.1:p.Gly321Val

Select item 14884251635.

rs1488425163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103579344 (GRCh38)
1:104121966 (GRCh37)
Canonical SPDI:: NC_000001.11:103579343:T:C
Gene:: AMY2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.103579344T>C, NC_000001.10:g.104121966T>C, NM_020978.4:c.1380T>C, NM_001386109.1:c.1380T>C, NM_001387437.1:c.1380T>C

Select item 14869370496.

rs1486937049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103575531 (GRCh38)
1:104118153 (GRCh37)
Canonical SPDI:: NC_000001.11:103575530:A:G
Gene:: AMY2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.103575531A>G, NC_000001.10:g.104118153A>G, NM_020978.4:c.1092A>G, NM_001386109.1:c.1092A>G, NM_001387437.1:c.1092A>G

Select item 14860950877.

rs1486095087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:103573258 (GRCh38)
1:104115880 (GRCh37)
Canonical SPDI:: NC_000001.11:103573257:C:A,NC_000001.11:103573257:C:G
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103573258C>A, NC_000001.11:g.103573258C>G, NC_000001.10:g.104115880C>A, NC_000001.10:g.104115880C>G, NM_020978.4:c.511C>A, NM_020978.4:c.511C>G, NM_001386109.1:c.511C>A, NM_001386109.1:c.511C>G, NM_001387437.1:c.511C>A, NM_001387437.1:c.511C>G, NP_066188.1:p.Gln171Lys, NP_066188.1:p.Gln171Glu, NP_001373038.1:p.Gln171Lys, NP_001373038.1:p.Gln171Glu, NP_001374366.1:p.Gln171Lys, NP_001374366.1:p.Gln171Glu

Select item 14793966628.

rs1479396662 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAATTTTT [Show Flanks]
Chromosome:: 1:103577603 (GRCh38)
1:104120226 (GRCh37)
Canonical SPDI:: NC_000001.11:103577603::TAATTTTT
Gene:: AMY2B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: TAATTTTT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103577603_103577604insTAATTTTT, NC_000001.10:g.104120225_104120226insTAATTTTT, NM_020978.4:c.1215_1216insTAATTTTT, NM_001386109.1:c.1215_1216insTAATTTTT, NM_001387437.1:c.1215_1216insTAATTTTT, NP_066188.1:p.Ile406Ter, NP_001373038.1:p.Ile406Ter, NP_001374366.1:p.Ile406Ter

Select item 14787457069.

rs1478745706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103575255 (GRCh38)
1:104117877 (GRCh37)
Canonical SPDI:: NC_000001.11:103575254:C:T
Gene:: AMY2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103575255C>T, NC_000001.10:g.104117877C>T, NM_020978.4:c.911C>T, NM_001386109.1:c.911C>T, NM_001387437.1:c.911C>T, NP_066188.1:p.Ser304Phe, NP_001373038.1:p.Ser304Phe, NP_001374366.1:p.Ser304Phe

Select item 147836492310.

rs1478364923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:103575464 (GRCh38)
1:104118086 (GRCh37)
Canonical SPDI:: NC_000001.11:103575463:T:A
Gene:: AMY2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103575464T>A, NC_000001.10:g.104118086T>A, NM_020978.4:c.1025T>A, NM_001386109.1:c.1025T>A, NM_001387437.1:c.1025T>A, NP_066188.1:p.Phe342Tyr, NP_001373038.1:p.Phe342Tyr, NP_001374366.1:p.Phe342Tyr

Select item 147631878211.

rs1476318782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:103571751 (GRCh38)
1:104114373 (GRCh37)
Canonical SPDI:: NC_000001.11:103571750:A:C,NC_000001.11:103571750:A:G
Gene:: AMY2B (Varview), ACTG1P4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.103571751A>C, NC_000001.11:g.103571751A>G, NC_000001.10:g.104114373A>C, NC_000001.10:g.104114373A>G, NM_020978.4:c.149A>C, NM_020978.4:c.149A>G, NM_001386109.1:c.149A>C, NM_001386109.1:c.149A>G, NM_001387437.1:c.149A>C, NM_001387437.1:c.149A>G, NP_066188.1:p.Lys50Thr, NP_066188.1:p.Lys50Arg, NP_001373038.1:p.Lys50Thr, NP_001373038.1:p.Lys50Arg, NP_001374366.1:p.Lys50Thr, NP_001374366.1:p.Lys50Arg

Select item 147631247612.

rs1476312476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103575311 (GRCh38)
1:104117933 (GRCh37)
Canonical SPDI:: NC_000001.11:103575310:G:A
Gene:: AMY2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.103575311G>A, NC_000001.10:g.104117933G>A, NM_020978.4:c.967G>A, NM_001386109.1:c.967G>A, NM_001387437.1:c.967G>A, NP_066188.1:p.Gly323Arg, NP_001373038.1:p.Gly323Arg, NP_001374366.1:p.Gly323Arg

Select item 147622819013.

rs1476228190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103573147 (GRCh38)
1:104115769 (GRCh37)
Canonical SPDI:: NC_000001.11:103573146:T:C
Gene:: AMY2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103573147T>C, NC_000001.10:g.104115769T>C, NM_020978.4:c.400T>C, NM_001386109.1:c.400T>C, NM_001387437.1:c.400T>C, NP_066188.1:p.Phe134Leu, NP_001373038.1:p.Phe134Leu, NP_001374366.1:p.Phe134Leu

Select item 147422398914.

rs1474223989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:103573820 (GRCh38)
1:104116442 (GRCh37)
Canonical SPDI:: NC_000001.11:103573819:T:G
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.103573820T>G, NC_000001.10:g.104116442T>G, NM_020978.4:c.626T>G, NM_001386109.1:c.626T>G, NM_001387437.1:c.626T>G, NP_066188.1:p.Phe209Cys, NP_001373038.1:p.Phe209Cys, NP_001374366.1:p.Phe209Cys

Select item 147186434015.

rs1471864340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103575523 (GRCh38)
1:104118145 (GRCh37)
Canonical SPDI:: NC_000001.11:103575522:C:T
Gene:: AMY2B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103575523C>T, NC_000001.10:g.104118145C>T, NM_020978.4:c.1084C>T, NM_001386109.1:c.1084C>T, NM_001387437.1:c.1084C>T, NP_066188.1:p.Gln362Ter, NP_001373038.1:p.Gln362Ter, NP_001374366.1:p.Gln362Ter

Select item 146821878716.

rs1468218787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103577569 (GRCh38)
1:104120191 (GRCh37)
Canonical SPDI:: NC_000001.11:103577568:G:A
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103577569G>A, NC_000001.10:g.104120191G>A, NM_020978.4:c.1181G>A, NM_001386109.1:c.1181G>A, NM_001387437.1:c.1181G>A, NP_066188.1:p.Gly394Asp, NP_001373038.1:p.Gly394Asp, NP_001374366.1:p.Gly394Asp

Select item 146450036917.

rs1464500369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:103573149 (GRCh38)
1:104115771 (GRCh37)
Canonical SPDI:: NC_000001.11:103573148:C:A
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.103573149C>A, NC_000001.10:g.104115771C>A, NM_020978.4:c.402C>A, NM_001386109.1:c.402C>A, NM_001387437.1:c.402C>A, NP_066188.1:p.Phe134Leu, NP_001373038.1:p.Phe134Leu, NP_001374366.1:p.Phe134Leu

Select item 146437179518.

rs1464371795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:103573117 (GRCh38)
1:104115739 (GRCh37)
Canonical SPDI:: NC_000001.11:103573116:G:A,NC_000001.11:103573116:G:T
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.103573117G>A, NC_000001.11:g.103573117G>T, NC_000001.10:g.104115739G>A, NC_000001.10:g.104115739G>T, NM_020978.4:c.370G>A, NM_020978.4:c.370G>T, NM_001386109.1:c.370G>A, NM_001386109.1:c.370G>T, NM_001387437.1:c.370G>A, NM_001387437.1:c.370G>T, NP_066188.1:p.Ala124Thr, NP_066188.1:p.Ala124Ser, NP_001373038.1:p.Ala124Thr, NP_001373038.1:p.Ala124Ser, NP_001374366.1:p.Ala124Thr, NP_001374366.1:p.Ala124Ser

Select item 146081956519.

rs1460819565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103575444 (GRCh38)
1:104118066 (GRCh37)
Canonical SPDI:: NC_000001.11:103575443:G:A
Gene:: AMY2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103575444G>A, NC_000001.10:g.104118066G>A, NM_020978.4:c.1005G>A, NM_001386109.1:c.1005G>A, NM_001387437.1:c.1005G>A

Select item 145972237920.

rs1459722379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:103574310 (GRCh38)
1:104116932 (GRCh37)
Canonical SPDI:: NC_000001.11:103574309:T:A
Gene:: AMY2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103574310T>A, NC_000001.10:g.104116932T>A, NM_020978.4:c.795T>A, NM_001386109.1:c.795T>A, NM_001387437.1:c.795T>A, NP_066188.1:p.Asn265Lys, NP_001373038.1:p.Asn265Lys, NP_001374366.1:p.Asn265Lys

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