Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205211512C>T , CM000663.2:g.205211512C>T | GRCh38 |
| NC_000001.10:g.205180640C>T , CM000663.1:g.205180640C>T | GRCh37 |
| NC_000001.9:g.203447263C>T | NCBI36 |
| NG_033904.1:g.5088G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015375.3:c.24G>A MANE Select | NP_056190.1:p.Trp8Ter |
| ENST00000367162.8:c.24G>A MANE Select | ENSP00000356130.3:p.Trp8Ter |
| NM_015375.2:c.24G>A | NP_056190.1:p.Trp8Ter |
| NM_199462.2:c.24G>A | NP_955749.1:p.Trp8Ter |
| NM_199462.3:c.24G>A | NP_955749.1:p.Trp8Ter |
| ENST00000367161.7:c.24G>A | ENSP00000356129.3:p.Trp8Ter |
| ENST00000367162.7:c.24G>A | ENSP00000356130.3:p.Trp8Ter |
| XM_011509392.1:c.24G>A | XP_011507694.1:p.Trp8Ter |
| XM_011509392.2:c.24G>A | XP_011507694.1:p.Trp8Ter |