Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59842573A>C , CM000673.2:g.59842573A>C | GRCh38 |
| NC_000011.9:g.59610046A>C , CM000673.1:g.59610046A>C | GRCh37 |
| NC_000011.8:g.59366622A>C | NCBI36 |
| NG_008120.1:g.7929T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.381T>G MANE Select | NP_005133.2:p.Ala127= |
| ENST00000257248.3:c.381T>G MANE Select | ENSP00000257248.2:p.Ala127= |
| NM_005142.2:c.381T>G | NP_005133.2:p.Ala127= |
| ENST00000257248.2:c.381T>G | ENSP00000257248.2:p.Ala127= |
| ENST00000525058.5:c.*348T>G | ENSP00000433196.1:n.*348T>G |
| ENST00000532070.1:n.871T>G | |
| XM_011544939.1:c.381T>G | XP_011543241.1:p.Ala127= |
| XM_011544939.3:c.381T>G | XP_011543241.1:p.Ala127= |