Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39587516G>A , CM000677.2:g.39587516G>A | GRCh38 |
| NC_000015.9:g.39879717G>A , CM000677.1:g.39879717G>A | GRCh37 |
| NC_000015.8:g.37667009G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003246.4:c.1290G>A MANE Select | NP_003237.2:p.Lys430= |
| ENST00000260356.6:c.1290G>A MANE Select | ENSP00000260356.5:p.Lys430= |
| NM_003246.2:c.1290G>A | NP_003237.2:p.Lys430= |
| NM_003246.3:c.1290G>A | NP_003237.2:p.Lys430= |
| ENST00000260356.5:c.1290G>A | ENSP00000260356.5:p.Lys430= |
| ENST00000466755.1:n.65G>A | |
| ENST00000497720.1:n.86G>A | |
| XM_011521970.1:c.1290G>A | XP_011520272.1:p.Lys430= |
| XM_011521971.1:c.1290G>A | XP_011520273.1:p.Lys430= |
| XM_011521971.2:c.1290G>A | XP_011520273.1:p.Lys430= |
| XR_931897.1:n.1465G>A |