Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39582456G>A , CM000677.2:g.39582456G>A | GRCh38 |
| NC_000015.9:g.39874657G>A , CM000677.1:g.39874657G>A | GRCh37 |
| NC_000015.8:g.37661949G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.331G>A MANE Select | ENSP00000260356.5:p.Asp111Asn | |
| ENST00000260356.5:c.331G>A | ENSP00000260356.5:p.Asp111Asn | |
| NM_003246.2:c.331G>A | NP_003237.2:p.Asp111Asn | |
| NM_003246.3:c.331G>A | NP_003237.2:p.Asp111Asn | |
| XM_011521970.1:c.331G>A | XP_011520272.1:p.Asp111Asn | |
| XM_011521971.1:c.331G>A | XP_011520273.1:p.Asp111Asn | |
| XR_931897.1:n.506G>A | ||
| XM_011521971.2:c.331G>A | XP_011520273.1:p.Asp111Asn | |
| NM_003246.4:c.331G>A MANE Select | NP_003237.2:p.Asp111Asn |