Linked Data
dbSNP Id:
rs901901548
gnomAD v2:
12-109994711-C-A
gnomAD v3:
12-109556906-C-A
gnomAD v4:
12-109556906-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109556906C>A , CM000674.2:g.109556906C>A | GRCh38 |
| NC_000012.11:g.109994711C>A , CM000674.1:g.109994711C>A | GRCh37 |
| NC_000012.10:g.108479094C>A | NCBI36 |
| NG_007096.1:g.21592G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.*122G>T MANE Select | ENSP00000445920.1:n.*122G>T | |
| ENST00000537496.5:c.*440G>T | ENSP00000444793.1:n.*440G>T | |
| ENST00000540016.5:c.*122G>T | ENSP00000474582.1:n.*122G>T | |
| ENST00000541763.6:c.1100G>T | ENSP00000474981.1:n.1100G>T | |
| ENST00000544051.5:c.*756G>T | ENSP00000438079.1:n.*756G>T | |
| ENST00000545712.6:c.*122G>T | ENSP00000445920.1:n.*122G>T | |
| NM_052845.3:c.*122G>T | NP_443077.1:n.*122G>T | |
| NR_038118.1:n.1035G>T | ||
| XM_011538266.1:c.*222G>T | XP_011536568.1:n.*222G>T | |
| XM_011538267.1:c.*222G>T | XP_011536569.1:n.*222G>T | |
| XM_011538268.1:c.*122G>T | XP_011536570.1:n.*122G>T | |
| XM_011538269.1:c.*122G>T | XP_011536571.1:n.*122G>T | |
| XM_011538267.3:c.*222G>T | XP_011536569.1:n.*222G>T | |
| XM_011538268.2:c.*122G>T | XP_011536570.1:n.*122G>T | |
| XM_011538269.2:c.*122G>T | XP_011536571.1:n.*122G>T | |
| NM_052845.4:c.*122G>T MANE Select | NP_443077.1:n.*122G>T | |
| NR_038118.2:n.986G>T |