Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763400G>T , CM000679.2:g.74763400G>T | GRCh38 |
| NC_000017.10:g.72759539G>T , CM000679.1:g.72759539G>T | GRCh37 |
| NC_000017.9:g.70271134G>T | NCBI36 |
| NG_013022.1:g.19777G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.637G>T MANE Select | ENSP00000262613.5:p.Gly213Trp | |
| ENST00000262613.9:c.637G>T | ENSP00000262613.5:p.Gly213Trp | |
| ENST00000413388.2:c.169G>T | ENSP00000464982.1:p.Gly57Trp | |
| ENST00000578958.1:n.371G>T | ||
| ENST00000583369.5:c.442-4747G>T | ENSP00000464321.1:n.442-4747G>T | |
| NM_004252.4:c.637G>T | NP_004243.1:p.Gly213Trp | |
| XR_002958087.1:n.856G>T | ||
| NM_004252.5:c.637G>T MANE Select | NP_004243.1:p.Gly213Trp |