Linked Data
ClinVar Variation Id:
311951
dbSNP Id:
rs144811771
ExAC:
13:39263218 C / T
gnomAD v2:
13-39263218-C-T
gnomAD v3:
13-38689081-C-T
gnomAD v4:
13-38689081-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38689081C>T , CM000675.2:g.38689081C>T | GRCh38 |
| NC_000013.10:g.39263218C>T , CM000675.1:g.39263218C>T | GRCh37 |
| NC_000013.9:g.38161218C>T | NCBI36 |
| NG_008125.2:g.7046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.1737C>T MANE Select | ENSP00000280481.7:p.Ile579= | |
| ENST00000280481.8:c.1737C>T | ENSP00000280481.7:p.Ile579= | |
| NM_207361.5:c.1737C>T | NP_997244.4:p.Ile579= | |
| XM_011535057.1:c.1737C>T | XP_011533359.1:p.Ile579= | |
| XR_941571.1:n.2045C>T | ||
| XM_017020554.1:c.1737C>T | XP_016876043.1:p.Ile579= | |
| XR_941571.2:n.2041C>T | ||
| NM_207361.6:c.1737C>T MANE Select | NP_997244.4:p.Ile579= |