Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.125190511G>C , CM000665.2:g.125190511G>C | GRCh38 |
| NC_000003.11:g.124909355G>C , CM000665.1:g.124909355G>C | GRCh37 |
| NC_000003.10:g.126392045G>C | NCBI36 |
| NG_027706.1:g.27255C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024628.6:c.62C>G MANE Select | NP_078904.4:p.Ala21Gly |
| ENST00000469902.6:c.62C>G MANE Select | ENSP00000418783.1:p.Ala21Gly |
| NM_001195483.1:c.62C>G | NP_001182412.1:p.Ala21Gly |
| NM_001195483.2:c.62C>G | NP_001182412.2:p.Ala21Gly |
| NM_024628.5:c.62C>G | NP_078904.3:p.Ala21Gly |
| ENST00000393469.8:c.62C>G | ENSP00000377112.4:p.Ala21Gly |
| ENST00000462437.1:c.-35C>G | ENSP00000418636.1:n.-35C>G |
| ENST00000469902.5:c.62C>G | ENSP00000418783.1:p.Ala21Gly |
| ENST00000473262.5:c.15C>G |