Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134916410C>G , CM000671.2:g.134916410C>G | GRCh38 |
| NC_000009.11:g.137808256C>G , CM000671.1:g.137808256C>G | GRCh37 |
| NC_000009.10:g.136948077C>G | NCBI36 |
| NG_046982.2:g.6551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371806.4:c.155G>C MANE Select | ENSP00000360871.3:p.Gly52Ala | |
| ENST00000371806.3:c.155G>C | ENSP00000360871.3:p.Gly52Ala | |
| ENST00000616356.4:c.155G>C | ENSP00000479379.1:p.Gly52Ala | |
| NM_002003.3:c.155G>C | NP_001994.2:p.Gly52Ala | |
| NM_002003.4:c.155G>C | NP_001994.2:p.Gly52Ala | |
| NM_002003.5:c.155G>C MANE Select | NP_001994.2:p.Gly52Ala |