Linked Data
dbSNP Id:
rs780364499
ExAC:
15:75013087 G / A
gnomAD v2:
15-75013087-G-A
gnomAD v4:
15-74720746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720746G>A , CM000677.2:g.74720746G>A | GRCh38 |
| NC_000015.9:g.75013087G>A , CM000677.1:g.75013087G>A | GRCh37 |
| NC_000015.8:g.72800140G>A | NCBI36 |
| NG_008431.1:g.3205G>A | |
| NG_008431.2:g.3205G>A | |
| NG_061374.1:g.9783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1282C>T MANE Select | ENSP00000369050.3:p.Leu428= | |
| ENST00000379727.7:c.1282C>T | ENSP00000369050.3:p.Leu428= | |
| ENST00000395048.6:c.1282C>T | ENSP00000378488.2:p.Leu428= | |
| ENST00000395049.8:c.1195C>T | ENSP00000378489.4:p.Leu399= | |
| ENST00000562201.5:c.*519C>T | ENSP00000455340.1:n.*519C>T | |
| ENST00000564596.5:c.*217C>T | ENSP00000457668.1:n.*217C>T | |
| ENST00000566503.1:c.499C>T | ENSP00000455846.1:p.Leu167= | |
| ENST00000567032.5:c.1282C>T | ENSP00000456585.1:p.Leu428= | |
| ENST00000569630.5:c.*871C>T | ENSP00000455051.1:n.*871C>T | |
| ENST00000612821.4:c.1198C>T | ENSP00000479744.1:p.Leu400= | |
| ENST00000617691.4:c.1195C>T | ENSP00000482863.1:p.Leu399= | |
| NM_000499.3:c.1282C>T | NP_000490.1:p.Leu428= | |
| XM_005254185.1:c.1282C>T | XP_005254242.1:p.Leu428= | |
| NM_000499.5:c.1282C>T | NP_000490.1:p.Leu428= | |
| NM_001319216.2:c.1195C>T | NP_001306145.1:p.Leu399= | |
| NM_001319217.2:c.1282C>T MANE Select | NP_001306146.1:p.Leu428= |