Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822811G>A , CM000671.2:g.129822811G>A | GRCh38 |
| NC_000009.11:g.132585090G>A , CM000671.1:g.132585090G>A | GRCh37 |
| NC_000009.10:g.131624911G>A | NCBI36 |
| NG_008049.1:g.6352C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.214C>T MANE Select | NP_000104.1:p.Gln72Ter |
| ENST00000351698.5:c.214C>T MANE Select | ENSP00000345719.4:p.Gln72Ter |
| NM_000113.2:c.214C>T | NP_000104.1:p.Gln72Ter |
| ENST00000351698.4:c.214C>T | ENSP00000345719.4:p.Gln72Ter |
| ENST00000473084.1:n.233C>T | |
| ENST00000473604.2:n.324C>T | |
| ENST00000651202.1:c.310C>T | ENSP00000498222.1:p.Gln104Ter |
| XR_929731.1:n.374C>T | |
| XR_929731.3:n.242C>T |