Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14722479G>C , CM000671.2:g.14722479G>C | GRCh38 |
| NC_000009.11:g.14722477G>C , CM000671.1:g.14722477G>C | GRCh37 |
| NC_000009.10:g.14712477G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005454.3:c.194C>G MANE Select | NP_005445.1:p.Ala65Gly |
| ENST00000380911.4:c.194C>G MANE Select | ENSP00000370297.3:p.Ala65Gly |
| NM_005454.2:c.194C>G | NP_005445.1:p.Ala65Gly |
| ENST00000380911.3:c.194C>G | ENSP00000370297.3:p.Ala65Gly |
| XR_001746419.1:n.1830C>G |