Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133064098C>T , CM000671.2:g.133064098C>T | GRCh38 |
| NC_000009.11:g.135939485C>T , CM000671.1:g.135939485C>T | GRCh37 |
| NC_000009.10:g.134929306C>T | NCBI36 |
| NG_016394.1:g.7121C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.67-306C>T MANE Select | NP_001798.3:n.67-306C>T |
| ENST00000372080.8:c.67-306C>T MANE Select | ENSP00000361151.6:n.67-306C>T |
| NM_001807.4:c.76-306C>T | NP_001798.2:n.76-306C>T |
| NM_001807.5:c.67-306C>T | NP_001798.3:n.67-306C>T |
| ENST00000372080.6:c.76-306C>T | ENSP00000361151.4:n.76-306C>T |
| ENST00000621209.1:c.75+2030C>T | ENSP00000480238.1:n.75+2030C>T |