Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74634466C>A , CM000671.2:g.74634466C>A | GRCh38 |
| NC_000009.11:g.77249382C>A , CM000671.1:g.77249382C>A | GRCh37 |
| NC_000009.10:g.76439202C>A | NCBI36 |
| NG_046926.2:g.142131C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006914.4:c.94-165C>A MANE Select | NP_008845.2:n.94-165C>A |
| ENST00000376896.8:c.94-165C>A MANE Select | ENSP00000366093.2:n.94-165C>A |
| NM_001365023.1:c.127-165C>A | NP_001351952.1:n.127-165C>A |
| NM_006914.3:c.94-165C>A | NP_008845.2:n.94-165C>A |
| ENST00000376896.7:c.94-165C>A | ENSP00000366093.2:n.94-165C>A |
| ENST00000396204.2:c.127-165C>A | ENSP00000379507.2:n.127-165C>A |
| XR_929948.1:n.565-1344G>T | |
| XR_929948.2:n.565-1344G>T |