Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.51384649C>G , CM000667.2:g.51384649C>G | GRCh38 |
| NC_000005.9:g.50680483C>G , CM000667.1:g.50680483C>G | GRCh37 |
| NC_000005.8:g.50716240C>G | NCBI36 |
| NG_023040.1:g.6526C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230658.12:c.137C>G MANE Select | ENSP00000230658.7:p.Ala46Gly | |
| ENST00000230658.11:c.137C>G | ENSP00000230658.7:p.Ala46Gly | |
| ENST00000511384.1:c.137C>G | ENSP00000422676.1:p.Ala46Gly | |
| NM_002202.2:c.137C>G | NP_002193.2:p.Ala46Gly | |
| NM_002202.3:c.137C>G MANE Select | NP_002193.2:p.Ala46Gly |