Linked Data
dbSNP Id:
rs747995894
ExAC:
12:109994872 G / A
gnomAD v2:
12-109994872-G-A
gnomAD v4:
12-109557067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557067G>A , CM000674.2:g.109557067G>A | GRCh38 |
| NC_000012.11:g.109994872G>A , CM000674.1:g.109994872G>A | GRCh37 |
| NC_000012.10:g.108479255G>A | NCBI36 |
| NG_007096.1:g.21431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.714C>T MANE Select | ENSP00000445920.1:p.Tyr238= | |
| ENST00000537496.5:c.*279C>T | ENSP00000444793.1:n.*279C>T | |
| ENST00000540016.5:c.558C>T | ENSP00000474582.1:p.Tyr186= | |
| ENST00000541763.6:c.939C>T | ENSP00000474981.1:n.939C>T | |
| ENST00000544051.5:c.*595C>T | ENSP00000438079.1:n.*595C>T | |
| ENST00000545712.6:c.714C>T | ENSP00000445920.1:p.Tyr238= | |
| NM_052845.3:c.714C>T | NP_443077.1:p.Tyr238= | |
| NR_038118.1:n.874C>T | ||
| XM_011538266.1:c.*61C>T | XP_011536568.1:n.*61C>T | |
| XM_011538267.1:c.*61C>T | XP_011536569.1:n.*61C>T | |
| XM_011538268.1:c.441C>T | XP_011536570.1:p.Tyr147= | |
| XM_011538269.1:c.438C>T | XP_011536571.1:p.Tyr146= | |
| XM_011538267.3:c.*61C>T | XP_011536569.1:n.*61C>T | |
| XM_011538268.2:c.441C>T | XP_011536570.1:p.Tyr147= | |
| XM_011538269.2:c.438C>T | XP_011536571.1:p.Tyr146= | |
| NM_052845.4:c.714C>T MANE Select | NP_443077.1:p.Tyr238= | |
| NR_038118.2:n.825C>T |