Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919893T>A , CM000679.2:g.74919893T>A | GRCh38 |
| NC_000017.10:g.72915988T>A , CM000679.1:g.72915988T>A | GRCh37 |
| NC_000017.9:g.70427583T>A | NCBI36 |
| NG_007882.1:g.8364A>T | |
| NG_033062.1:g.619T>A | |
| NG_007882.2:g.8371A>T | |
| NG_033062.2:g.619T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.943A>T MANE Select | ENSP00000480279.1:p.Met315Leu | |
| ENST00000579243.1:c.*542A>T | ENSP00000462568.1:n.*542A>T | |
| ENST00000614341.4:c.943A>T | ENSP00000480279.1:p.Met315Leu | |
| NM_001282489.2:c.634A>T | NP_001269418.1:p.Met212Leu | |
| NM_173477.4:c.943A>T | NP_775748.2:p.Met315Leu | |
| XM_011524296.1:c.634A>T | XP_011522598.1:p.Met212Leu | |
| XM_011524296.2:c.634A>T | XP_011522598.1:p.Met212Leu | |
| NM_173477.5:c.943A>T MANE Select | NP_775748.2:p.Met315Leu | |
| NM_001282489.3:c.634A>T | NP_001269418.1:p.Met212Leu |