gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122451978T>A , CM000666.2:g.122451978T>A | GRCh38 |
| NC_000004.11:g.123373133T>A , CM000666.1:g.123373133T>A | GRCh37 |
| NC_000004.10:g.123592583T>A | NCBI36 |
| NG_016779.1:g.9518A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226730.5:c.352-116A>T MANE Select | ENSP00000226730.5:n.352-116A>T | |
| ENST00000226730.4:c.352-116A>T | ENSP00000226730.4:n.352-116A>T | |
| ENST00000477645.1:n.442-116A>T | ||
| NM_000586.3:c.352-116A>T | NP_000577.2:n.352-116A>T | |
| XM_017008177.1:c.351+1732A>T | XP_016863666.1:n.351+1732A>T | |
| NM_000586.4:c.352-116A>T MANE Select | NP_000577.2:n.352-116A>T |