Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920325C>A , CM000679.2:g.74920325C>A | GRCh38 |
| NC_000017.10:g.72916420C>A , CM000679.1:g.72916420C>A | GRCh37 |
| NC_000017.9:g.70428015C>A | NCBI36 |
| NG_007882.1:g.7932G>T | |
| NG_033062.1:g.1051C>A | |
| NG_007882.2:g.7939G>T | |
| NG_033062.2:g.1051C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.511G>T MANE Select | NP_775748.2:p.Glu171Ter |
| ENST00000614341.5:c.511G>T MANE Select | ENSP00000480279.1:p.Glu171Ter |
| NM_001282489.2:c.202G>T | NP_001269418.1:p.Glu68Ter |
| NM_001282489.3:c.202G>T | NP_001269418.1:p.Glu68Ter |
| NM_173477.4:c.511G>T | NP_775748.2:p.Glu171Ter |
| ENST00000579243.1:c.*110G>T | ENSP00000462568.1:n.*110G>T |
| ENST00000614341.4:c.511G>T | ENSP00000480279.1:p.Glu171Ter |
| XM_011524296.1:c.202G>T | XP_011522598.1:p.Glu68Ter |
| XM_011524296.2:c.202G>T | XP_011522598.1:p.Glu68Ter |