Linked Data
ClinVar Variation Id:
311950
dbSNP Id:
rs114341997
ExAC:
13:39263128 C / A
gnomAD v2:
13-39263128-C-A
gnomAD v3:
13-38688991-C-A
gnomAD v4:
13-38688991-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38688991C>A , CM000675.2:g.38688991C>A | GRCh38 |
| NC_000013.10:g.39263128C>A , CM000675.1:g.39263128C>A | GRCh37 |
| NC_000013.9:g.38161128C>A | NCBI36 |
| NG_008125.2:g.6956C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.1647C>A MANE Select | ENSP00000280481.7:p.Phe549Leu | |
| ENST00000280481.8:c.1647C>A | ENSP00000280481.7:p.Phe549Leu | |
| NM_207361.5:c.1647C>A | NP_997244.4:p.Phe549Leu | |
| XM_011535057.1:c.1647C>A | XP_011533359.1:p.Phe549Leu | |
| XR_941571.1:n.1955C>A | ||
| XM_017020554.1:c.1647C>A | XP_016876043.1:p.Phe549Leu | |
| XR_941571.2:n.1951C>A | ||
| NM_207361.6:c.1647C>A MANE Select | NP_997244.4:p.Phe549Leu |