Linked Data
ClinVar Variation Id:
792060
ClinVar RCV Id:
RCV000975135
dbSNP Id:
rs73780818
ExAC:
6:151936711 C / A
gnomAD v2:
6-151936711-C-A
gnomAD v3:
6-151615576-C-A
gnomAD v4:
6-151615576-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615576C>A , CM000668.2:g.151615576C>A | GRCh38 |
| NC_000006.11:g.151936711C>A , CM000668.1:g.151936711C>A | GRCh37 |
| NC_000006.10:g.151978404C>A | NCBI36 |
| NG_021198.1:g.126537C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1844C>A MANE Select | ENSP00000239374.6:p.Ala615Asp | |
| ENST00000239374.7:c.1844C>A | ENSP00000239374.6:p.Ala615Asp | |
| NM_025059.3:c.1844C>A | NP_079335.2:p.Ala615Asp | |
| XM_011536147.1:c.1862C>A | XP_011534449.1:p.Ala621Asp | |
| XM_011536148.1:c.1661C>A | XP_011534450.1:p.Ala554Asp | |
| XM_011536147.2:c.1862C>A | XP_011534449.1:p.Ala621Asp | |
| XM_011536148.2:c.1661C>A | XP_011534450.1:p.Ala554Asp | |
| XR_001743865.1:n.129+1145G>T | ||
| NM_025059.4:c.1844C>A MANE Select | NP_079335.2:p.Ala615Asp |