Linked Data
dbSNP Id:
rs769101923
ExAC:
1:159856332 G / A
gnomAD v2:
1-159856332-G-A
gnomAD v3:
1-159886542-G-A
gnomAD v4:
1-159886542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886542G>A , CM000663.2:g.159886542G>A | GRCh38 |
| NC_000001.10:g.159856332G>A , CM000663.1:g.159856332G>A | GRCh37 |
| NC_000001.9:g.158122956G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.736C>T MANE Select | ENSP00000357079.4:p.Leu246= | |
| ENST00000368099.8:c.736C>T | ENSP00000357079.4:p.Leu246= | |
| ENST00000426543.6:c.481C>T | ENSP00000403044.2:p.Leu161= | |
| ENST00000476696.5:c.736C>T | ENSP00000483972.1:p.Leu246= | |
| NM_012337.2:c.736C>T | NP_036469.2:p.Leu246= | |
| NM_012337.3:c.736C>T MANE Select | NP_036469.2:p.Leu246= |