Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751841C>A , CM000677.2:g.74751841C>A | GRCh38 |
| NC_000015.9:g.75044182C>A , CM000677.1:g.75044182C>A | GRCh37 |
| NC_000015.8:g.72831235C>A | NCBI36 |
| NG_008431.1:g.34300C>A | |
| NG_008431.2:g.34300C>A | |
| NG_061543.1:g.7997C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1029C>A MANE Select | ENSP00000342007.4:p.Ile343= | |
| ENST00000343932.4:c.1029C>A | ENSP00000342007.4:p.Ile343= | |
| NM_000761.4:c.1029C>A | NP_000752.2:p.Ile343= | |
| NM_000761.5:c.1029C>A MANE Select | NP_000752.2:p.Ile343= |