Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813733G>T , CM000671.2:g.129813733G>T | GRCh38 |
| NC_000009.11:g.132576012G>T , CM000671.1:g.132576012G>T | GRCh37 |
| NC_000009.10:g.131615833G>T | NCBI36 |
| NG_008049.1:g.15430C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*239C>A MANE Select | ENSP00000345719.4:n.*239C>A | |
| ENST00000651202.1:c.*506C>A | ENSP00000498222.1:n.*506C>A | |
| ENST00000351698.4:c.*239C>A | ENSP00000345719.4:n.*239C>A | |
| ENST00000474192.1:n.822C>A | ||
| NM_000113.2:c.*239C>A | NP_000104.1:n.*239C>A | |
| XR_929731.3:n.1433C>A | ||
| NM_000113.3:c.*239C>A MANE Select | NP_000104.1:n.*239C>A |