Linked Data
ClinVar Variation Id:
402171
ClinVar RCV Id:
RCV000454248
dbSNP Id:
rs375131638
gnomAD v4:
20-37999220-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37999220C>T , CM000682.2:g.37999220C>T | GRCh38 |
| NC_000020.10:g.36627622C>T , CM000682.1:g.36627622C>T | GRCh37 |
| NC_000020.9:g.36061036C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373447.8:c.2761G>A MANE Select | ENSP00000362546.3:p.Asp921Asn | |
| ENST00000373447.7:c.2761G>A | ENSP00000362546.3:p.Asp921Asn | |
| ENST00000373448.6:c.2761G>A | ENSP00000362547.2:p.Asp921Asn | |
| ENST00000449821.1:c.2761G>A | ENSP00000407270.1:p.Asp921Asn | |
| ENST00000473288.1:n.220G>A | ||
| NM_001303457.1:c.2761G>A | NP_001290386.1:p.Asp921Asn | |
| NM_014657.2:c.2761G>A | NP_055472.1:p.Asp921Asn | |
| XM_011529112.1:c.2761G>A | XP_011527414.1:p.Asp921Asn | |
| XM_011529113.1:c.2612G>A | XP_011527415.1:p.Gly871Glu | |
| XM_011529114.1:c.2612G>A | XP_011527416.1:p.Gly871Glu | |
| XM_011529115.1:c.2612G>A | XP_011527417.1:p.Gly871Glu | |
| XR_244159.2:n.2867G>A | ||
| XR_936662.1:n.2867G>A | ||
| XR_936663.1:n.2867G>A | ||
| XM_011529114.2:c.2612G>A | XP_011527416.1:p.Gly871Glu | |
| XM_017028148.2:c.2761G>A | XP_016883637.1:p.Asp921Asn | |
| XR_001754440.2:n.2860G>A | ||
| XR_001754441.2:n.2711G>A | ||
| XR_001754442.2:n.2877G>A | ||
| XR_001754443.2:n.2877G>A | ||
| XR_244159.4:n.2860G>A | ||
| XR_936662.3:n.2860G>A | ||
| NM_001303457.2:c.2761G>A MANE Select | NP_001290386.1:p.Asp921Asn | |
| NM_014657.3:c.2761G>A | NP_055472.1:p.Asp921Asn |