Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38784706G>T , CM000675.2:g.38784706G>T | GRCh38 |
| NC_000013.10:g.39358843G>T , CM000675.1:g.39358843G>T | GRCh37 |
| NC_000013.9:g.38256843G>T | NCBI36 |
| NG_008125.2:g.102671G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.5917G>T MANE Select | NP_997244.4:p.Glu1973Ter |
| ENST00000280481.9:c.5917G>T MANE Select | ENSP00000280481.7:p.Glu1973Ter |
| NM_207361.5:c.5917G>T | NP_997244.4:p.Glu1973Ter |
| ENST00000280481.8:c.5917G>T | ENSP00000280481.7:p.Glu1973Ter |
| XM_011535057.1:c.5917G>T | XP_011533359.1:p.Glu1973Ter |
| XR_941571.1:n.6225G>T | |
| XR_941571.2:n.6221G>T |