Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920561C>T , CM000679.2:g.74920561C>T | GRCh38 |
| NC_000017.10:g.72916656C>T , CM000679.1:g.72916656C>T | GRCh37 |
| NC_000017.9:g.70428251C>T | NCBI36 |
| NG_007882.1:g.7696G>A | |
| NG_033062.1:g.1287C>T | |
| NG_007882.2:g.7703G>A | |
| NG_033062.2:g.1287C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.275G>A MANE Select | NP_775748.2:p.Trp92Ter |
| ENST00000614341.5:c.275G>A MANE Select | ENSP00000480279.1:p.Trp92Ter |
| NM_001282489.2:c.-35G>A | NP_001269418.1:n.-35G>A |
| NM_001282489.3:c.-35G>A | NP_001269418.1:n.-35G>A |
| NM_173477.4:c.275G>A | NP_775748.2:p.Trp92Ter |
| ENST00000579243.1:c.222G>A | ENSP00000462568.1:p.Leu74= |
| ENST00000614341.4:c.275G>A | ENSP00000480279.1:p.Trp92Ter |
| XM_011524296.1:c.-35G>A | XP_011522598.1:n.-35G>A |
| XM_011524296.2:c.-35G>A | XP_011522598.1:n.-35G>A |