Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133071335G>C , CM000671.2:g.133071335G>C | GRCh38 |
| NC_000009.11:g.135946722G>C , CM000671.1:g.135946722G>C | GRCh37 |
| NC_000009.10:g.134936543G>C | NCBI36 |
| NG_016394.1:g.14358G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001807.6:c.1833G>C MANE Select | NP_001798.3:p.Gly611= |
| ENST00000372080.8:c.1833G>C MANE Select | ENSP00000361151.6:p.Gly611= |
| NM_001807.4:c.1842G>C | NP_001798.2:p.Gly614= |
| NM_001807.5:c.1833G>C | NP_001798.3:p.Gly611= |
| ENST00000372080.6:c.1842G>C | ENSP00000361151.4:p.Gly614= |
| ENST00000621209.1:c.*723+110G>C | ENSP00000480238.1:n.*723+110G>C |