Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73324218T>G , CM000677.2:g.73324218T>G | GRCh38 |
| NC_000015.9:g.73616559T>G , CM000677.1:g.73616559T>G | GRCh37 |
| NC_000015.8:g.71403612T>G | NCBI36 |
| NG_009063.1:g.50047A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.2014A>C MANE Select | NP_005468.1:p.Ser672Arg |
| ENST00000261917.4:c.2014A>C MANE Select | ENSP00000261917.3:p.Ser672Arg |
| NM_005477.2:c.2014A>C | NP_005468.1:p.Ser672Arg |
| ENST00000261917.3:c.2014A>C | ENSP00000261917.3:p.Ser672Arg |
| XM_011521148.1:c.796A>C | XP_011519450.1:p.Ser266Arg |
| XM_011521148.2:c.796A>C | XP_011519450.1:p.Ser266Arg |