Linked Data
ClinVar Variation Id:
939180
ClinVar RCV Id:
RCV001208531
dbSNP Id:
rs764496534
ExAC:
8:87588177 G / A
gnomAD v2:
8-87588177-G-A
gnomAD v3:
8-86575949-G-A
gnomAD v4:
8-86575949-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575949G>A , CM000670.2:g.86575949G>A | GRCh38 |
| NC_000008.10:g.87588177G>A , CM000670.1:g.87588177G>A | GRCh37 |
| NC_000008.9:g.87657293G>A | NCBI36 |
| NG_016980.1:g.172727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2285C>T MANE Select | ENSP00000316605.5:p.Ala762Val | |
| ENST00000681546.1:n.2105C>T | ||
| ENST00000681746.1:c.*696C>T | ENSP00000505959.1:n.*696C>T | |
| ENST00000320005.5:c.2285C>T | ENSP00000316605.5:p.Ala762Val | |
| ENST00000517327.5:c.276+2740C>T | ENSP00000428329.1:n.276+2740C>T | |
| NM_019098.4:c.2285C>T | NP_061971.3:p.Ala762Val | |
| XM_011517138.1:c.1871C>T | XP_011515440.1:p.Ala624Val | |
| XM_011517138.2:c.1871C>T | XP_011515440.1:p.Ala624Val | |
| NM_019098.5:c.2285C>T MANE Select | NP_061971.3:p.Ala762Val |