SNP Links for Protein (Select 224028271) - SNP

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Links from Protein

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Select item 14832381621.

rs1483238162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:85978888 (GRCh38)
X:85233892 (GRCh37)
Canonical SPDI:: NC_000023.11:85978887:T:G
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85978888T>G, NC_000023.10:g.85233892T>G, NG_009874.2:g.73675A>C, NM_000390.4:c.193A>C, NM_000390.3:c.193A>C, NM_000390.2:c.193A>C, NM_001145414.4:c.193A>C, NM_001145414.3:c.193A>C, NM_001145414.2:c.193A>C, NM_001145414.1:c.193A>C, NM_001362518.2:c.-248A>C, NM_001362518.1:c.-248A>C, NM_001362517.1:c.-252A>C, NM_001362519.1:c.-248A>C, NM_001320959.1:c.-252A>C, XM_017029242.3:c.193A>C, XM_017029242.2:c.193A>C, XM_017029242.1:c.193A>C, XM_047441794.1:c.-252A>C, XM_047441793.1:c.-252A>C, NM_001037312.1:c.193A>C, NP_000381.1:p.Asn65His, NP_001138886.1:p.Asn65His, XP_016884731.1:p.Asn65His

Select item 14799162942.

rs1479916294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:85981773 (GRCh38)
X:85236777 (GRCh37)
Canonical SPDI:: NC_000023.11:85981772:G:T
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000023.11:g.85981773G>T, NC_000023.10:g.85236777G>T, NG_009874.2:g.70790C>A, NM_000390.4:c.153C>A, NM_000390.3:c.153C>A, NM_000390.2:c.153C>A, NM_001145414.4:c.153C>A, NM_001145414.3:c.153C>A, NM_001145414.2:c.153C>A, NM_001145414.1:c.153C>A, NM_001362518.2:c.-288C>A, NM_001362518.1:c.-288C>A, NM_001362517.1:c.-292C>A, NM_001362519.1:c.-288C>A, NM_001320959.1:c.-292C>A, XM_017029242.3:c.153C>A, XM_017029242.2:c.153C>A, XM_017029242.1:c.153C>A, XM_047441794.1:c.-292C>A, XM_047441793.1:c.-292C>A, NM_001037312.1:c.153C>A, NP_000381.1:p.Ser51Arg, NP_001138886.1:p.Ser51Arg, XP_016884731.1:p.Ser51Arg

Select item 14640553713.

rs1464055371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:86027502 (GRCh38)
X:85282506 (GRCh37)
Canonical SPDI:: NC_000023.11:86027501:C:A,NC_000023.11:86027501:C:G
Gene:: CHM (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86027502C>A, NC_000023.11:g.86027502C>G, NC_000023.10:g.85282506C>A, NC_000023.10:g.85282506C>G, NG_009874.2:g.25061G>T, NG_009874.2:g.25061G>C, NM_000390.4:c.105G>T, NM_000390.4:c.105G>C, NM_000390.3:c.105G>T, NM_000390.3:c.105G>C, NM_000390.2:c.105G>T, NM_000390.2:c.105G>C, NM_001145414.4:c.105G>T, NM_001145414.4:c.105G>C, NM_001145414.3:c.105G>T, NM_001145414.3:c.105G>C, NM_001145414.2:c.105G>T, NM_001145414.2:c.105G>C, NM_001145414.1:c.105G>T, NM_001145414.1:c.105G>C, NM_001362518.2:c.-336G>T, NM_001362518.2:c.-336G>C, NM_001362518.1:c.-336G>T, NM_001362518.1:c.-336G>C, NM_001362517.1:c.-340G>T, NM_001362517.1:c.-340G>C, NM_001362519.1:c.-336G>T, NM_001362519.1:c.-336G>C, NM_001320959.1:c.-340G>T, NM_001320959.1:c.-340G>C, XM_017029242.3:c.105G>T, XM_017029242.3:c.105G>C, XM_017029242.2:c.105G>T, XM_017029242.2:c.105G>C, XM_017029242.1:c.105G>T, XM_017029242.1:c.105G>C, XM_047441794.1:c.-340G>T, XM_047441794.1:c.-340G>C, XM_047441793.1:c.-340G>T, XM_047441793.1:c.-340G>C, NM_001037312.1:c.105G>T, NM_001037312.1:c.105G>C, NM_152579.1:c.-148G>T, NM_152579.1:c.-148G>C

Select item 13657656614.

rs1365765661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:86047497 (GRCh38)
X:85302501 (GRCh37)
Canonical SPDI:: NC_000023.11:86047496:G:A
Gene:: CHM (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.86047497G>A, NC_000023.10:g.85302501G>A, NG_009874.2:g.5066C>T, NM_000390.4:c.36C>T, NM_000390.3:c.36C>T, NM_000390.2:c.36C>T, NM_001145414.4:c.36C>T, NM_001145414.3:c.36C>T, NM_001145414.2:c.36C>T, NM_001145414.1:c.36C>T, XM_017029242.3:c.36C>T, XM_017029242.2:c.36C>T, XM_017029242.1:c.36C>T, XM_047441793.1:c.-493C>T, NM_001037312.1:c.36C>T

Select item 13574956765.

rs1357495676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:86047513 (GRCh38)
X:85302517 (GRCh37)
Canonical SPDI:: NC_000023.11:86047512:G:A
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.86047513G>A, NC_000023.10:g.85302517G>A, NG_009874.2:g.5050C>T, NM_000390.4:c.20C>T, NM_000390.3:c.20C>T, NM_000390.2:c.20C>T, NM_001145414.4:c.20C>T, NM_001145414.3:c.20C>T, NM_001145414.2:c.20C>T, NM_001145414.1:c.20C>T, XM_017029242.3:c.20C>T, XM_017029242.2:c.20C>T, XM_017029242.1:c.20C>T, XM_047441793.1:c.-509C>T, NM_001037312.1:c.20C>T, NP_000381.1:p.Ser7Leu, NP_001138886.1:p.Ser7Leu, XP_016884731.1:p.Ser7Leu

Select item 13547409936.

rs1354740993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85981738 (GRCh38)
X:85236742 (GRCh37)
Canonical SPDI:: NC_000023.11:85981737:T:C
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000023.11:g.85981738T>C, NC_000023.10:g.85236742T>C, NG_009874.2:g.70825A>G, NM_000390.4:c.188A>G, NM_000390.3:c.188A>G, NM_000390.2:c.188A>G, NM_001145414.4:c.188A>G, NM_001145414.3:c.188A>G, NM_001145414.2:c.188A>G, NM_001145414.1:c.188A>G, NM_001362518.2:c.-253A>G, NM_001362518.1:c.-253A>G, NM_001362517.1:c.-257A>G, NM_001362519.1:c.-253A>G, NM_001320959.1:c.-257A>G, XM_017029242.3:c.188A>G, XM_017029242.2:c.188A>G, XM_017029242.1:c.188A>G, XM_047441794.1:c.-257A>G, XM_047441793.1:c.-257A>G, NM_001037312.1:c.188A>G, NP_000381.1:p.Gln63Arg, NP_001138886.1:p.Gln63Arg, XP_016884731.1:p.Gln63Arg

Select item 13274717047.

rs1327471704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:85978885 (GRCh38)
X:85233889 (GRCh37)
Canonical SPDI:: NC_000023.11:85978884:T:A
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.85978885T>A, NC_000023.10:g.85233889T>A, NG_009874.2:g.73678A>T, NM_000390.4:c.196A>T, NM_000390.3:c.196A>T, NM_000390.2:c.196A>T, NM_001145414.4:c.196A>T, NM_001145414.3:c.196A>T, NM_001145414.2:c.196A>T, NM_001145414.1:c.196A>T, NM_001362518.2:c.-245A>T, NM_001362518.1:c.-245A>T, NM_001362517.1:c.-249A>T, NM_001362519.1:c.-245A>T, NM_001320959.1:c.-249A>T, XM_017029242.3:c.196A>T, XM_017029242.2:c.196A>T, XM_017029242.1:c.196A>T, XM_047441794.1:c.-249A>T, XM_047441793.1:c.-249A>T, NM_001037312.1:c.196A>T, NP_000381.1:p.Ser66Cys, NP_001138886.1:p.Ser66Cys, XP_016884731.1:p.Ser66Cys

Select item 13232680778.

rs1323268077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:85978823 (GRCh38)
X:85233827 (GRCh37)
Canonical SPDI:: NC_000023.11:85978822:A:G
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.85978823A>G, NC_000023.10:g.85233827A>G, NG_009874.2:g.73740T>C, NM_000390.4:c.258T>C, NM_000390.3:c.258T>C, NM_000390.2:c.258T>C, NM_001145414.4:c.258T>C, NM_001145414.3:c.258T>C, NM_001145414.2:c.258T>C, NM_001145414.1:c.258T>C, NM_001362518.2:c.-183T>C, NM_001362518.1:c.-183T>C, NM_001362517.1:c.-187T>C, NM_001362519.1:c.-183T>C, NM_001320959.1:c.-187T>C, XM_017029242.3:c.258T>C, XM_017029242.2:c.258T>C, XM_017029242.1:c.258T>C, XM_047441794.1:c.-187T>C, XM_047441793.1:c.-187T>C, NM_001037312.1:c.258T>C

Select item 13212854279.

rs1321285427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:86027536 (GRCh38)
X:85282540 (GRCh37)
Canonical SPDI:: NC_000023.11:86027535:G:C
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86027536G>C, NC_000023.10:g.85282540G>C, NG_009874.2:g.25027C>G, NM_000390.4:c.71C>G, NM_000390.3:c.71C>G, NM_000390.2:c.71C>G, NM_001145414.4:c.71C>G, NM_001145414.3:c.71C>G, NM_001145414.2:c.71C>G, NM_001145414.1:c.71C>G, NM_001362518.2:c.-370C>G, NM_001362518.1:c.-370C>G, NM_001362517.1:c.-374C>G, NM_001362519.1:c.-370C>G, NM_001320959.1:c.-374C>G, XM_017029242.3:c.71C>G, XM_017029242.2:c.71C>G, XM_017029242.1:c.71C>G, XM_047441794.1:c.-374C>G, XM_047441793.1:c.-374C>G, NM_001037312.1:c.71C>G, NM_152579.1:c.-182C>G, NP_000381.1:p.Ala24Gly, NP_001138886.1:p.Ala24Gly, XP_016884731.1:p.Ala24Gly

Select item 127886484510.

rs1278864845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:86047508 (GRCh38)
X:85302512 (GRCh37)
Canonical SPDI:: NC_000023.11:86047507:A:G
Gene:: CHM (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86047508A>G, NC_000023.10:g.85302512A>G, NG_009874.2:g.5055T>C, NM_000390.4:c.25T>C, NM_000390.3:c.25T>C, NM_000390.2:c.25T>C, NM_001145414.4:c.25T>C, NM_001145414.3:c.25T>C, NM_001145414.2:c.25T>C, NM_001145414.1:c.25T>C, XM_017029242.3:c.25T>C, XM_017029242.2:c.25T>C, XM_017029242.1:c.25T>C, XM_047441793.1:c.-504T>C, NM_001037312.1:c.25T>C, NP_000381.1:p.Phe9Leu, NP_001138886.1:p.Phe9Leu, XP_016884731.1:p.Phe9Leu

Select item 127666299711.

rs1276662997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85981745 (GRCh38)
X:85236749 (GRCh37)
Canonical SPDI:: NC_000023.11:85981744:C:T
Gene:: CHM (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.85981745C>T, NC_000023.10:g.85236749C>T, NG_009874.2:g.70818G>A, NM_000390.4:c.181G>A, NM_000390.3:c.181G>A, NM_000390.2:c.181G>A, NM_001145414.4:c.181G>A, NM_001145414.3:c.181G>A, NM_001145414.2:c.181G>A, NM_001145414.1:c.181G>A, NM_001362518.2:c.-260G>A, NM_001362518.1:c.-260G>A, NM_001362517.1:c.-264G>A, NM_001362519.1:c.-260G>A, NM_001320959.1:c.-264G>A, XM_017029242.3:c.181G>A, XM_017029242.2:c.181G>A, XM_017029242.1:c.181G>A, XM_047441794.1:c.-264G>A, XM_047441793.1:c.-264G>A, NM_001037312.1:c.181G>A, NP_000381.1:p.Glu61Lys, NP_001138886.1:p.Glu61Lys, XP_016884731.1:p.Glu61Lys

Select item 127237469512.

rs1272374695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:85978850 (GRCh38)
X:85233854 (GRCh37)
Canonical SPDI:: NC_000023.11:85978849:G:T
Gene:: CHM (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85978850G>T, NC_000023.10:g.85233854G>T, NG_009874.2:g.73713C>A, NM_000390.4:c.231C>A, NM_000390.3:c.231C>A, NM_000390.2:c.231C>A, NM_001145414.4:c.231C>A, NM_001145414.3:c.231C>A, NM_001145414.2:c.231C>A, NM_001145414.1:c.231C>A, NM_001362518.2:c.-210C>A, NM_001362518.1:c.-210C>A, NM_001362517.1:c.-214C>A, NM_001362519.1:c.-210C>A, NM_001320959.1:c.-214C>A, XM_017029242.3:c.231C>A, XM_017029242.2:c.231C>A, XM_017029242.1:c.231C>A, XM_047441794.1:c.-214C>A, XM_047441793.1:c.-214C>A, NM_001037312.1:c.231C>A, NP_000381.1:p.Asp77Glu, NP_001138886.1:p.Asp77Glu, XP_016884731.1:p.Asp77Glu

Select item 123963877813.

rs1239638778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:85981751 (GRCh38)
X:85236755 (GRCh37)
Canonical SPDI:: NC_000023.11:85981750:G:C
Gene:: CHM (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.85981751G>C, NC_000023.10:g.85236755G>C, NG_009874.2:g.70812C>G, NM_000390.4:c.175C>G, NM_000390.3:c.175C>G, NM_000390.2:c.175C>G, NM_001145414.4:c.175C>G, NM_001145414.3:c.175C>G, NM_001145414.2:c.175C>G, NM_001145414.1:c.175C>G, NM_001362518.2:c.-266C>G, NM_001362518.1:c.-266C>G, NM_001362517.1:c.-270C>G, NM_001362519.1:c.-266C>G, NM_001320959.1:c.-270C>G, XM_017029242.3:c.175C>G, XM_017029242.2:c.175C>G, XM_017029242.1:c.175C>G, XM_047441794.1:c.-270C>G, XM_047441793.1:c.-270C>G, NM_001037312.1:c.175C>G, NP_000381.1:p.Leu59Val, NP_001138886.1:p.Leu59Val, XP_016884731.1:p.Leu59Val

Select item 123032232514.

rs1230322325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: X:86047515 (GRCh38)
X:85302519 (GRCh37)
Canonical SPDI:: NC_000023.11:86047514:A:C,NC_000023.11:86047514:A:T
Gene:: CHM (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86047515A>C, NC_000023.11:g.86047515A>T, NC_000023.10:g.85302519A>C, NC_000023.10:g.85302519A>T, NG_009874.2:g.5048T>G, NG_009874.2:g.5048T>A, NM_000390.4:c.18T>G, NM_000390.4:c.18T>A, NM_000390.3:c.18T>G, NM_000390.3:c.18T>A, NM_000390.2:c.18T>G, NM_000390.2:c.18T>A, NM_001145414.4:c.18T>G, NM_001145414.4:c.18T>A, NM_001145414.3:c.18T>G, NM_001145414.3:c.18T>A, NM_001145414.2:c.18T>G, NM_001145414.2:c.18T>A, NM_001145414.1:c.18T>G, NM_001145414.1:c.18T>A, XM_017029242.3:c.18T>G, XM_017029242.3:c.18T>A, XM_017029242.2:c.18T>G, XM_017029242.2:c.18T>A, XM_017029242.1:c.18T>G, XM_017029242.1:c.18T>A, XM_047441793.1:c.-511T>G, XM_047441793.1:c.-511T>A, NM_001037312.1:c.18T>G, NM_001037312.1:c.18T>A

Select item 122050566415.

rs1220505664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:86027553 (GRCh38)
X:85282557 (GRCh37)
Canonical SPDI:: NC_000023.11:86027552:C:T
Gene:: CHM (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.86027553C>T, NC_000023.10:g.85282557C>T, NG_009874.2:g.25010G>A, NM_000390.4:c.54G>A, NM_000390.3:c.54G>A, NM_000390.2:c.54G>A, NM_001145414.4:c.54G>A, NM_001145414.3:c.54G>A, NM_001145414.2:c.54G>A, NM_001145414.1:c.54G>A, NM_001362518.2:c.-387G>A, NM_001362518.1:c.-387G>A, NM_001362517.1:c.-391G>A, NM_001362519.1:c.-387G>A, NM_001320959.1:c.-391G>A, XM_017029242.3:c.54G>A, XM_017029242.2:c.54G>A, XM_017029242.1:c.54G>A, XM_047441794.1:c.-391G>A, XM_047441793.1:c.-391G>A, NM_001037312.1:c.54G>A, NM_152579.1:c.-199G>A

Select item 121399548616.

rs1213995486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85978825 (GRCh38)
X:85233829 (GRCh37)
Canonical SPDI:: NC_000023.11:85978824:T:C
Gene:: CHM (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.85978825T>C, NC_000023.10:g.85233829T>C, NG_009874.2:g.73738A>G, NM_000390.4:c.256A>G, NM_000390.3:c.256A>G, NM_000390.2:c.256A>G, NM_001145414.4:c.256A>G, NM_001145414.3:c.256A>G, NM_001145414.2:c.256A>G, NM_001145414.1:c.256A>G, NM_001362518.2:c.-185A>G, NM_001362518.1:c.-185A>G, NM_001362517.1:c.-189A>G, NM_001362519.1:c.-185A>G, NM_001320959.1:c.-189A>G, XM_017029242.3:c.256A>G, XM_017029242.2:c.256A>G, XM_017029242.1:c.256A>G, XM_047441794.1:c.-189A>G, XM_047441793.1:c.-189A>G, NM_001037312.1:c.256A>G, NP_000381.1:p.Ile86Val, NP_001138886.1:p.Ile86Val, XP_016884731.1:p.Ile86Val

Select item 121082630517.

rs1210826305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85981761 (GRCh38)
X:85236765 (GRCh37)
Canonical SPDI:: NC_000023.11:85981760:T:C
Gene:: CHM (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85981761T>C, NC_000023.10:g.85236765T>C, NG_009874.2:g.70802A>G, NM_000390.4:c.165A>G, NM_000390.3:c.165A>G, NM_000390.2:c.165A>G, NM_001145414.4:c.165A>G, NM_001145414.3:c.165A>G, NM_001145414.2:c.165A>G, NM_001145414.1:c.165A>G, NM_001362518.2:c.-276A>G, NM_001362518.1:c.-276A>G, NM_001362517.1:c.-280A>G, NM_001362519.1:c.-276A>G, NM_001320959.1:c.-280A>G, XM_017029242.3:c.165A>G, XM_017029242.2:c.165A>G, XM_017029242.1:c.165A>G, XM_047441794.1:c.-280A>G, XM_047441793.1:c.-280A>G, NM_001037312.1:c.165A>G

Select item 118531365118.

rs1185313651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:86047528 (GRCh38)
X:85302532 (GRCh37)
Canonical SPDI:: NC_000023.11:86047527:G:A,NC_000023.11:86047527:G:C
Gene:: CHM (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.86047528G>A, NC_000023.11:g.86047528G>C, NC_000023.10:g.85302532G>A, NC_000023.10:g.85302532G>C, NG_009874.2:g.5035C>T, NG_009874.2:g.5035C>G, NM_000390.4:c.5C>T, NM_000390.4:c.5C>G, NM_000390.3:c.5C>T, NM_000390.3:c.5C>G, NM_000390.2:c.5C>T, NM_000390.2:c.5C>G, NM_001145414.4:c.5C>T, NM_001145414.4:c.5C>G, NM_001145414.3:c.5C>T, NM_001145414.3:c.5C>G, NM_001145414.2:c.5C>T, NM_001145414.2:c.5C>G, NM_001145414.1:c.5C>T, NM_001145414.1:c.5C>G, XM_017029242.3:c.5C>T, XM_017029242.3:c.5C>G, XM_017029242.2:c.5C>T, XM_017029242.2:c.5C>G, XM_017029242.1:c.5C>T, XM_017029242.1:c.5C>G, XM_047441793.1:c.-524C>T, XM_047441793.1:c.-524C>G, NM_001037312.1:c.5C>T, NM_001037312.1:c.5C>G, NP_000381.1:p.Ala2Val, NP_000381.1:p.Ala2Gly, NP_001138886.1:p.Ala2Val, NP_001138886.1:p.Ala2Gly, XP_016884731.1:p.Ala2Val, XP_016884731.1:p.Ala2Gly

Select item 117343456719.

rs1173434567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:85971568 (GRCh38)
X:85226572 (GRCh37)
Canonical SPDI:: NC_000023.11:85971567:T:G
Gene:: CHM (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,intron_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85971568T>G, NC_000023.10:g.85226572T>G, NG_009874.2:g.80995A>C, NM_001145414.4:c.333A>C, NM_001145414.3:c.333A>C, NM_001145414.2:c.333A>C, NM_001145414.1:c.333A>C, NM_001037312.1:c.333A>C, NP_001138886.1:p.Ter111Cys

Select item 116986876020.

rs1169868760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:86027513 (GRCh38)
X:85282517 (GRCh37)
Canonical SPDI:: NC_000023.11:86027512:G:A
Gene:: CHM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.86027513G>A, NC_000023.10:g.85282517G>A, NG_009874.2:g.25050C>T, NM_000390.4:c.94C>T, NM_000390.3:c.94C>T, NM_000390.2:c.94C>T, NM_001145414.4:c.94C>T, NM_001145414.3:c.94C>T, NM_001145414.2:c.94C>T, NM_001145414.1:c.94C>T, NM_001362518.2:c.-347C>T, NM_001362518.1:c.-347C>T, NM_001362517.1:c.-351C>T, NM_001362519.1:c.-347C>T, NM_001320959.1:c.-351C>T, XM_017029242.3:c.94C>T, XM_017029242.2:c.94C>T, XM_017029242.1:c.94C>T, XM_047441794.1:c.-351C>T, XM_047441793.1:c.-351C>T, NM_001037312.1:c.94C>T, NM_152579.1:c.-159C>T, NP_000381.1:p.Arg32Trp, NP_001138886.1:p.Arg32Trp, XP_016884731.1:p.Arg32Trp

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