Linked Data
dbSNP Id:
rs751527115
ExAC:
12:109994860 G / A
gnomAD v2:
12-109994860-G-A
gnomAD v4:
12-109557055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557055G>A , CM000674.2:g.109557055G>A | GRCh38 |
| NC_000012.11:g.109994860G>A , CM000674.1:g.109994860G>A | GRCh37 |
| NC_000012.10:g.108479243G>A | NCBI36 |
| NG_007096.1:g.21443C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.726C>T MANE Select | ENSP00000445920.1:p.Asp242= | |
| ENST00000537496.5:c.*291C>T | ENSP00000444793.1:n.*291C>T | |
| ENST00000540016.5:c.570C>T | ENSP00000474582.1:p.Asp190= | |
| ENST00000541763.6:c.951C>T | ENSP00000474981.1:n.951C>T | |
| ENST00000544051.5:c.*607C>T | ENSP00000438079.1:n.*607C>T | |
| ENST00000545712.6:c.726C>T | ENSP00000445920.1:p.Asp242= | |
| NM_052845.3:c.726C>T | NP_443077.1:p.Asp242= | |
| NR_038118.1:n.886C>T | ||
| XM_011538266.1:c.*73C>T | XP_011536568.1:n.*73C>T | |
| XM_011538267.1:c.*73C>T | XP_011536569.1:n.*73C>T | |
| XM_011538268.1:c.453C>T | XP_011536570.1:p.Asp151= | |
| XM_011538269.1:c.450C>T | XP_011536571.1:p.Asp150= | |
| XM_011538267.3:c.*73C>T | XP_011536569.1:n.*73C>T | |
| XM_011538268.2:c.453C>T | XP_011536570.1:p.Asp151= | |
| XM_011538269.2:c.450C>T | XP_011536571.1:p.Asp150= | |
| NM_052845.4:c.726C>T MANE Select | NP_443077.1:p.Asp242= | |
| NR_038118.2:n.837C>T |