Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920070C>G , CM000679.2:g.74920070C>G | GRCh38 |
| NC_000017.10:g.72916165C>G , CM000679.1:g.72916165C>G | GRCh37 |
| NC_000017.9:g.70427760C>G | NCBI36 |
| NG_007882.1:g.8187G>C | |
| NG_033062.1:g.796C>G | |
| NG_007882.2:g.8194G>C | |
| NG_033062.2:g.796C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.766G>C MANE Select | ENSP00000480279.1:p.Val256Leu | |
| ENST00000579243.1:c.*365G>C | ENSP00000462568.1:n.*365G>C | |
| ENST00000614341.4:c.766G>C | ENSP00000480279.1:p.Val256Leu | |
| NM_001282489.2:c.457G>C | NP_001269418.1:p.Val153Leu | |
| NM_173477.4:c.766G>C | NP_775748.2:p.Val256Leu | |
| XM_011524296.1:c.457G>C | XP_011522598.1:p.Val153Leu | |
| XM_011524296.2:c.457G>C | XP_011522598.1:p.Val153Leu | |
| NM_173477.5:c.766G>C MANE Select | NP_775748.2:p.Val256Leu | |
| NM_001282489.3:c.457G>C | NP_001269418.1:p.Val153Leu |