Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84441297G>A , CM000664.2:g.84441297G>A | GRCh38 |
| NC_000002.11:g.84668421G>A , CM000664.1:g.84668421G>A | GRCh37 |
| NC_000002.10:g.84521932G>A | NCBI36 |
| NG_016755.1:g.23166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.481C>T MANE Select | ENSP00000377446.2:p.Arg161Cys | |
| ENST00000651342.1:c.481C>T | ENSP00000498471.1:p.Arg161Cys | |
| ENST00000393868.6:c.481C>T | ENSP00000377446.2:p.Arg161Cys | |
| ENST00000430989.1:n.521C>T | ||
| ENST00000442240.5:c.492C>T | ||
| ENST00000483605.5:n.560C>T | ||
| ENST00000491642.5:n.653C>T | ||
| NM_003849.3:c.481C>T | NP_003840.2:p.Arg161Cys | |
| NM_003849.4:c.481C>T MANE Select | NP_003840.2:p.Arg161Cys |