Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949742T>A , CM000666.2:g.99949742T>A | GRCh38 |
| NC_000004.11:g.100870899T>A , CM000666.1:g.100870899T>A | GRCh37 |
| NC_000004.10:g.101089922T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.4-2A>T MANE Select | ENSP00000296417.5:n.4-2A>T | |
| ENST00000651623.1:c.4-2A>T | ENSP00000498935.1:n.4-2A>T | |
| ENST00000296417.5:c.4-2A>T | ENSP00000296417.5:n.4-2A>T | |
| ENST00000511203.1:n.558A>T | ||
| ENST00000511319.5:n.527A>T | ||
| ENST00000511348.1:n.189-2A>T | ||
| ENST00000527366.1:n.88-2A>T | ||
| ENST00000529158.5:n.53-2A>T | ||
| NM_002106.3:c.4-2A>T | NP_002097.1:n.4-2A>T | |
| NM_002106.4:c.4-2A>T MANE Select | NP_002097.1:n.4-2A>T |