Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6095544C>G , CM000674.2:g.6095544C>G | GRCh38 |
| NC_000012.11:g.6204710C>G , CM000674.1:g.6204710C>G | GRCh37 |
| NC_000012.10:g.6074971C>G | NCBI36 |
| NG_009072.1:g.34127G>C | |
| NG_009072.2:g.34127G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.573G>C MANE Select | NP_000543.3:p.Trp191Cys |
| ENST00000261405.10:c.573G>C MANE Select | ENSP00000261405.5:p.Trp191Cys |
| NM_000552.3:c.573G>C | NP_000543.2:p.Trp191Cys |
| NM_000552.4:c.573G>C | NP_000543.2:p.Trp191Cys |
| ENST00000261405.9:c.573G>C | ENSP00000261405.5:p.Trp191Cys |
| ENST00000321023.5:c.*632G>C | ENSP00000461331.1:n.*632G>C |
| ENST00000538635.5:n.420+14971G>C |