Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928884G>T , CM000684.2:g.43928884G>T | GRCh38 |
| NC_000022.10:g.44324764G>T , CM000684.1:g.44324764G>T | GRCh37 |
| NC_000022.9:g.42656097G>T | NCBI36 |
| NG_008631.1:g.10146G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.481G>T MANE Select | ENSP00000216180.3:p.Gly161Cys | |
| ENST00000216180.7:c.481G>T | ENSP00000216180.3:p.Gly161Cys | |
| ENST00000406117.6:c.*113G>T | ENSP00000384668.2:n.*113G>T | |
| ENST00000423180.2:c.469G>T | ENSP00000397987.2:p.Gly157Cys | |
| ENST00000478713.1:n.515G>T | ||
| NM_025225.2:c.481G>T | NP_079501.2:p.Gly161Cys | |
| NM_025225.3:c.481G>T MANE Select | NP_079501.2:p.Gly161Cys |