Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63959444G>T , CM000679.2:g.63959444G>T | GRCh38 |
| NC_000017.10:g.62036804G>T , CM000679.1:g.62036804G>T | GRCh37 |
| NC_000017.9:g.59390536G>T | NCBI36 |
| NG_011699.1:g.18475C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.1846-6C>A MANE Select | NP_000325.4:n.1846-6C>A |
| ENST00000435607.3:c.1846-6C>A MANE Select | ENSP00000396320.1:n.1846-6C>A |
| ENST00000578147.5:c.1846-6C>A | ENSP00000463963.1:n.1846-6C>A |
| ENST00000581514.1:n.502-6C>A | |
| XM_005257566.3:c.1846-6C>A | XP_005257623.1:n.1846-6C>A |