gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37477054T>A , CM000665.2:g.37477054T>A | GRCh38 |
| NC_000003.11:g.37518545T>A , CM000665.1:g.37518545T>A | GRCh37 |
| NC_000003.10:g.37493549T>A | NCBI36 |
| NG_016166.1:g.29733T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264741.10:c.420+3594T>A MANE Select | ENSP00000264741.5:n.420+3594T>A | |
| ENST00000264741.9:c.420+3594T>A | ENSP00000264741.5:n.420+3594T>A | |
| ENST00000422441.5:c.420+3594T>A | ENSP00000397258.1:n.420+3594T>A | |
| NM_002207.2:c.420+3594T>A | NP_002198.2:n.420+3594T>A | |
| NM_002207.3:c.420+3594T>A MANE Select | NP_002198.2:n.420+3594T>A |