Linked Data
ClinVar Variation Id:
203820
dbSNP Id:
rs369296618
ExAC:
12:109994886 G / A
gnomAD v2:
12-109994886-G-A
gnomAD v3:
12-109557081-G-A
gnomAD v4:
12-109557081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557081G>A , CM000674.2:g.109557081G>A | GRCh38 |
| NC_000012.11:g.109994886G>A , CM000674.1:g.109994886G>A | GRCh37 |
| NC_000012.10:g.108479269G>A | NCBI36 |
| NG_007096.1:g.21417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.700C>T MANE Select | ENSP00000445920.1:p.Gln234Ter | |
| ENST00000537496.5:c.*265C>T | ENSP00000444793.1:n.*265C>T | |
| ENST00000540016.5:c.544C>T | ENSP00000474582.1:p.Gln182Ter | |
| ENST00000541763.6:c.925C>T | ENSP00000474981.1:n.925C>T | |
| ENST00000544051.5:c.*581C>T | ENSP00000438079.1:n.*581C>T | |
| ENST00000545712.6:c.700C>T | ENSP00000445920.1:p.Gln234Ter | |
| NM_052845.3:c.700C>T | NP_443077.1:p.Gln234Ter | |
| NR_038118.1:n.860C>T | ||
| XM_011538266.1:c.*47C>T | XP_011536568.1:n.*47C>T | |
| XM_011538267.1:c.*47C>T | XP_011536569.1:n.*47C>T | |
| XM_011538268.1:c.427C>T | XP_011536570.1:p.Gln143Ter | |
| XM_011538269.1:c.424C>T | XP_011536571.1:p.Gln142Ter | |
| XM_011538267.3:c.*47C>T | XP_011536569.1:n.*47C>T | |
| XM_011538268.2:c.427C>T | XP_011536570.1:p.Gln143Ter | |
| XM_011538269.2:c.424C>T | XP_011536571.1:p.Gln142Ter | |
| NM_052845.4:c.700C>T MANE Select | NP_443077.1:p.Gln234Ter | |
| NR_038118.2:n.811C>T |