Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541884T>A , CM000671.2:g.98541884T>A | GRCh38 |
| NC_000009.11:g.101304166T>A , CM000671.1:g.101304166T>A | GRCh37 |
| NC_000009.10:g.100343987T>A | NCBI36 |
| NG_016426.1:g.172314A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.619A>T MANE Select | ENSP00000259455.2:p.Arg207Trp | |
| ENST00000637410.1:n.397A>T | ||
| ENST00000259455.3:c.619A>T | ENSP00000259455.2:p.Arg207Trp | |
| ENST00000477471.1:n.406A>T | ||
| ENST00000634227.1:n.393A>T | ||
| NM_005458.7:c.619A>T | NP_005449.5:p.Arg207Trp | |
| XM_017015331.2:c.325A>T | XP_016870820.1:p.Arg109Trp | |
| NM_005458.8:c.619A>T MANE Select | NP_005449.5:p.Arg207Trp |