Linked Data
ClinVar Variation Id:
1934828
ClinVar RCV Id:
RCV002622760
dbSNP Id:
rs768216292
ExAC:
19:15297710 C / T
gnomAD v2:
19-15297710-C-T
gnomAD v4:
19-15186899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15186899C>T , CM000681.2:g.15186899C>T | GRCh38 |
| NC_000019.9:g.15297710C>T , CM000681.1:g.15297710C>T | GRCh37 |
| NC_000019.8:g.15158710C>T | NCBI36 |
| NG_009819.1:g.19083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1930G>A MANE Select | ENSP00000263388.1:p.Val644Ile | |
| ENST00000263388.6:c.1930G>A | ENSP00000263388.1:p.Val644Ile | |
| ENST00000601011.1:c.1927G>A | ENSP00000473138.1:p.Val643Ile | |
| NM_000435.2:c.1930G>A | NP_000426.2:p.Val644Ile | |
| XM_005259924.3:c.1930G>A | XP_005259981.1:p.Val644Ile | |
| XM_005259924.4:c.1930G>A | XP_005259981.1:p.Val644Ile | |
| NM_000435.3:c.1930G>A MANE Select | NP_000426.2:p.Val644Ile |