Linked Data
ClinVar Variation Id:
66039
ClinVar RCV Id:
RCV000056278
dbSNP Id:
rs148319220
gnomAD v4:
16-77335884-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77335884G>C , CM000678.2:g.77335884G>C | GRCh38 |
| NC_000016.9:g.77369781G>C , CM000678.1:g.77369781G>C | GRCh37 |
| NC_000016.8:g.75927282G>C | NCBI36 |
| NG_031879.1:g.104231C>G | |
| NG_031879.2:g.104231C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282849.10:c.1731C>G MANE Select | ENSP00000282849.5:p.Cys577Trp | |
| ENST00000282849.9:c.1731C>G | ENSP00000282849.5:p.Cys577Trp | |
| NM_199355.2:c.1731C>G | NP_955387.1:p.Cys577Trp | |
| XM_011522923.1:c.1215C>G | XP_011521225.1:p.Cys405Trp | |
| XM_011522924.1:c.1215C>G | XP_011521226.1:p.Cys405Trp | |
| NM_001326358.1:c.1215C>G | NP_001313287.1:p.Cys405Trp | |
| NM_199355.3:c.1731C>G | NP_955387.1:p.Cys577Trp | |
| XM_011522924.2:c.1215C>G | XP_011521226.1:p.Cys405Trp | |
| XM_017022988.2:c.495C>G | XP_016878477.1:p.Cys165Trp | |
| XM_017022989.1:c.495C>G | XP_016878478.1:p.Cys165Trp | |
| NM_199355.4:c.1731C>G MANE Select | NP_955387.1:p.Cys577Trp | |
| NM_001326358.2:c.1215C>G | NP_001313287.1:p.Cys405Trp |