Linked Data
dbSNP Id:
rs768565749
ExAC:
12:111348911 G / A
gnomAD v2:
12-111348911-G-A
gnomAD v4:
12-110911107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911107G>A , CM000674.2:g.110911107G>A | GRCh38 |
| NC_000012.11:g.111348911G>A , CM000674.1:g.111348911G>A | GRCh37 |
| NC_000012.10:g.109833294G>A | NCBI36 |
| NG_007554.1:g.14471C>T , LRG_393:g.14471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.471C>T MANE Select | ENSP00000228841.8:p.His157= | |
| ENST00000663220.1:c.414C>T | ENSP00000499568.1:p.His138= | |
| ENST00000228841.12:c.471C>T | ENSP00000228841.7:p.His157= | |
| ENST00000548438.1:c.429C>T | ENSP00000447154.1:p.His143= | |
| NM_000432.3:c.471C>T , LRG_393t1:c.471C>T | NP_000423.2:p.His157= | |
| NM_000432.4:c.471C>T MANE Select | NP_000423.2:p.His157= |