Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813973C>T , CM000671.2:g.129813973C>T | GRCh38 |
| NC_000009.11:g.132576252C>T , CM000671.1:g.132576252C>T | GRCh37 |
| NC_000009.10:g.131616073C>T | NCBI36 |
| NG_008049.1:g.15190G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.998G>A MANE Select | ENSP00000345719.4:p.Ter333= | |
| ENST00000651202.1:c.*266G>A | ENSP00000498222.1:n.*266G>A | |
| ENST00000351698.4:c.998G>A | ENSP00000345719.4:p.Ter333= | |
| ENST00000474192.1:n.582G>A | ||
| NM_000113.2:c.998G>A | NP_000104.1:p.Ter333= | |
| XR_929731.3:n.1193G>A | ||
| NM_000113.3:c.998G>A MANE Select | NP_000104.1:p.Ter333= |