Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117675744G>A , CM000668.2:g.117675744G>A | GRCh38 |
| NC_000006.11:g.117996907G>A , CM000668.1:g.117996907G>A | GRCh37 |
| NC_000006.10:g.118103600G>A | NCBI36 |
| NG_054913.1:g.5291G>A | |
| NG_054913.2:g.5291G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.74G>A MANE Select | NP_612468.1:p.Trp25Ter |
| ENST00000368494.4:c.74G>A MANE Select | ENSP00000357480.3:p.Trp25Ter |
| NM_138459.3:c.74G>A | NP_612468.1:p.Trp25Ter |
| NM_138459.4:c.74G>A | NP_612468.1:p.Trp25Ter |
| ENST00000368494.3:c.74G>A | ENSP00000357480.3:p.Trp25Ter |