Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46146960G>T , CM000675.2:g.46146960G>T | GRCh38 |
| NC_000013.10:g.46721095G>T , CM000675.1:g.46721095G>T | GRCh37 |
| NC_000013.9:g.45619096G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002298.5:c.1122C>A MANE Select | NP_002289.2:p.Tyr374Ter |
| ENST00000323076.7:c.1122C>A MANE Select | ENSP00000315757.2:p.Tyr374Ter |
| NM_002298.4:c.1122C>A | NP_002289.2:p.Tyr374Ter |
| ENST00000323076.6:c.1122C>A | ENSP00000315757.2:p.Tyr374Ter |
| ENST00000398576.6:c.1122C>A | ENSP00000381581.1:p.Tyr374Ter |
| ENST00000469227.5:n.676C>A | |
| XM_005266374.1:c.1122C>A | XP_005266431.1:p.Tyr374Ter |
| XM_005266374.2:c.1122C>A | XP_005266431.1:p.Tyr374Ter |