Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39582246C>A , CM000677.2:g.39582246C>A | GRCh38 |
| NC_000015.9:g.39874447C>A , CM000677.1:g.39874447C>A | GRCh37 |
| NC_000015.8:g.37661739C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003246.4:c.121C>A MANE Select | NP_003237.2:p.Arg41Ser |
| ENST00000260356.6:c.121C>A MANE Select | ENSP00000260356.5:p.Arg41Ser |
| NM_003246.2:c.121C>A | NP_003237.2:p.Arg41Ser |
| NM_003246.3:c.121C>A | NP_003237.2:p.Arg41Ser |
| ENST00000260356.5:c.121C>A | ENSP00000260356.5:p.Arg41Ser |
| ENST00000397591.2:c.121C>A | ENSP00000380720.2:p.Arg41Ser |
| XM_011521970.1:c.121C>A | XP_011520272.1:p.Arg41Ser |
| XM_011521971.1:c.121C>A | XP_011520273.1:p.Arg41Ser |
| XM_011521971.2:c.121C>A | XP_011520273.1:p.Arg41Ser |
| XR_931897.1:n.296C>A |