Linked Data
dbSNP Id:
rs781823241
ExAC:
X:100601542 C / T
gnomAD v3:
X-101346554-C-T
gnomAD v4:
X-101346554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346554C>T , CM000685.2:g.101346554C>T | GRCh38 |
| NC_000023.10:g.100601542C>T , CM000685.1:g.100601542C>T | GRCh37 |
| NC_000023.9:g.100488198C>T | NCBI36 |
| NG_011734.1:g.7416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.239G>A MANE Select | ENSP00000361993.3:p.Arg80Gln | |
| ENST00000644112.2:c.*1833G>A | ENSP00000494385.1:n.*1833G>A | |
| ENST00000645279.1:c.*433G>A | ENSP00000494239.1:n.*433G>A | |
| ENST00000647480.1:n.756G>A | ||
| ENST00000372902.3:c.239G>A | ENSP00000361993.3:p.Arg80Gln | |
| NM_004085.3:c.239G>A | NP_004076.1:p.Arg80Gln | |
| NM_004085.4:c.239G>A MANE Select | NP_004076.1:p.Arg80Gln | |
| NM_001145951.2:c.*1833G>A | NP_001139423.1:n.*1833G>A |