Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7408664C>T , CM000679.2:g.7408664C>T | GRCh38 |
| NC_000017.10:g.7311983C>T , CM000679.1:g.7311983C>T | GRCh37 |
| NC_000017.9:g.7252707C>T | NCBI36 |
| NG_054929.1:g.468G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020795.4:c.409C>T MANE Select | NP_065846.1:p.Gln137Ter |
| ENST00000302926.7:c.409C>T MANE Select | ENSP00000305288.2:p.Gln137Ter |
| NM_020795.3:c.409C>T | NP_065846.1:p.Gln137Ter |
| ENST00000302926.6:c.409C>T | ENSP00000305288.2:p.Gln137Ter |
| ENST00000570940.1:c.24C>T | |
| ENST00000575301.5:c.409C>T | ENSP00000461168.1:p.Gln137Ter |
| XM_005256744.2:c.409C>T | XP_005256801.1:p.Gln137Ter |
| XM_005256744.4:c.409C>T | XP_005256801.1:p.Gln137Ter |
| XM_017024897.1:c.-81+3054C>T | XP_016880386.1:n.-81+3054C>T |