Linked Data
ClinVar Variation Id:
96245
dbSNP Id:
rs9593
ExAC:
12:109994870 A / T
gnomAD v2:
12-109994870-A-T
gnomAD v3:
12-109557065-A-T
gnomAD v4:
12-109557065-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557065A>T , CM000674.2:g.109557065A>T | GRCh38 |
| NC_000012.11:g.109994870A>T , CM000674.1:g.109994870A>T | GRCh37 |
| NC_000012.10:g.108479253A>T | NCBI36 |
| NG_007096.1:g.21433T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.716T>A MANE Select | ENSP00000445920.1:p.Met239Lys | |
| ENST00000537496.5:c.*281T>A | ENSP00000444793.1:n.*281T>A | |
| ENST00000540016.5:c.560T>A | ENSP00000474582.1:p.Met187Lys | |
| ENST00000541763.6:c.941T>A | ENSP00000474981.1:n.941T>A | |
| ENST00000544051.5:c.*597T>A | ENSP00000438079.1:n.*597T>A | |
| ENST00000545712.6:c.716T>A | ENSP00000445920.1:p.Met239Lys | |
| NM_052845.3:c.716T>A | NP_443077.1:p.Met239Lys | |
| NR_038118.1:n.876T>A | ||
| XM_011538266.1:c.*63T>A | XP_011536568.1:n.*63T>A | |
| XM_011538267.1:c.*63T>A | XP_011536569.1:n.*63T>A | |
| XM_011538268.1:c.443T>A | XP_011536570.1:p.Met148Lys | |
| XM_011538269.1:c.440T>A | XP_011536571.1:p.Met147Lys | |
| XM_011538267.3:c.*63T>A | XP_011536569.1:n.*63T>A | |
| XM_011538268.2:c.443T>A | XP_011536570.1:p.Met148Lys | |
| XM_011538269.2:c.440T>A | XP_011536571.1:p.Met147Lys | |
| NM_052845.4:c.716T>A MANE Select | NP_443077.1:p.Met239Lys | |
| NR_038118.2:n.827T>A |