Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82083643G>T , CM000679.2:g.82083643G>T | GRCh38 |
| NC_000017.10:g.80041519G>T , CM000679.1:g.80041519G>T | GRCh37 |
| NC_000017.9:g.77634808G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004104.5:c.5219-4C>A MANE Select | NP_004095.4:n.5219-4C>A |
| ENST00000306749.4:c.5219-4C>A MANE Select | ENSP00000304592.2:n.5219-4C>A |
| NM_004104.4:c.5219-4C>A | NP_004095.4:n.5219-4C>A |
| ENST00000306749.3:c.5219-4C>A | ENSP00000304592.2:n.5219-4C>A |
| ENST00000634990.1:c.5213-4C>A | ENSP00000488964.1:n.5213-4C>A |
| XM_011523538.1:c.5219-4C>A | XP_011521840.1:n.5219-4C>A |
| XM_011523538.2:c.5219-4C>A | XP_011521840.1:n.5219-4C>A |