Linked Data
ClinVar Variation Id:
463208
dbSNP Id:
rs142646143
ExAC:
1:236925911 G / A
gnomAD v2:
1-236925911-G-A
gnomAD v3:
1-236762611-G-A
gnomAD v4:
1-236762611-G-A
COSMIC:
COSM3864866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762611G>A , CM000663.2:g.236762611G>A | GRCh38 |
| NC_000001.10:g.236925911G>A , CM000663.1:g.236925911G>A | GRCh37 |
| NC_000001.9:g.234992534G>A | NCBI36 |
| NG_009081.1:g.81142G>A | |
| NG_009081.2:g.103471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2677G>A | ENSP00000443495.1:p.Asp893Asn | |
| ENST00000461367.2:n.973G>A | ||
| ENST00000492634.7:n.2607G>A | ||
| ENST00000682015.1:c.2584G>A | ENSP00000506961.1:p.Asp862Asn | |
| ENST00000682490.1:n.595G>A | ||
| ENST00000682692.1:n.3772G>A | ||
| ENST00000682966.1:n.8318G>A | ||
| ENST00000683111.1:c.*1963G>A | ENSP00000507913.1:n.*1963G>A | |
| ENST00000683322.1:n.4029G>A | ||
| ENST00000683805.1:n.1468G>A | ||
| ENST00000684050.1:n.5315G>A | ||
| ENST00000684122.1:n.2111G>A | ||
| ENST00000684286.1:n.4232G>A | ||
| ENST00000684502.1:n.3974G>A | ||
| ENST00000684763.1:n.1292G>A | ||
| ENST00000366578.6:c.2677G>A MANE Select | ENSP00000355537.4:p.Asp893Asn | |
| ENST00000492634.6:n.2607G>A | ||
| ENST00000542672.6:c.2677G>A | ENSP00000443495.1:p.Asp893Asn | |
| ENST00000651275.1:c.2569G>A | ENSP00000498926.1:p.Asp857Asn | |
| ENST00000651781.1:c.1757G>A | ||
| ENST00000651786.1:c.*2049G>A | ENSP00000498364.1:n.*2049G>A | |
| ENST00000652096.1:c.*2082G>A | ENSP00000498896.1:n.*2082G>A | |
| ENST00000366578.5:c.2677G>A | ENSP00000355537.4:p.Asp893Asn | |
| ENST00000542672.5:c.2677G>A | ENSP00000443495.1:p.Asp893Asn | |
| ENST00000546208.5:c.2053G>A | ENSP00000438384.2:p.Asp685Asn | |
| NM_001103.3:c.2677G>A | NP_001094.1:p.Asp893Asn | |
| NM_001278343.1:c.2677G>A | NP_001265272.1:p.Asp893Asn | |
| NM_001278344.1:c.2053G>A | NP_001265273.1:p.Asp685Asn | |
| NM_001278343.2:c.2677G>A | NP_001265272.1:p.Asp893Asn | |
| NM_001103.4:c.2677G>A MANE Select | NP_001094.1:p.Asp893Asn | |
| NM_001278344.2:c.2053G>A | NP_001265273.1:p.Asp685Asn |