Linked Data
ClinVar Variation Id:
541119
dbSNP Id:
rs762464608
ExAC:
X:73962151 G / T
gnomAD v2:
X-73962151-G-T
gnomAD v4:
X-74742316-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74742316G>T , CM000685.2:g.74742316G>T | GRCh38 |
| NC_000023.10:g.73962151G>T , CM000685.1:g.73962151G>T | GRCh37 |
| NC_000023.9:g.73878876G>T | NCBI36 |
| NG_027726.1:g.188137C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000055682.12:c.2241C>A MANE Select | ENSP00000055682.5:p.Ser747Arg | |
| ENST00000616200.2:c.2241C>A | ENSP00000480284.1:p.Ser747Arg | |
| ENST00000642681.2:c.2241C>A | ENSP00000495800.1:p.Ser747Arg | |
| ENST00000055682.10:c.2241C>A | ENSP00000055682.5:p.Ser747Arg | |
| ENST00000616200.1:c.2241C>A | ENSP00000480284.1:p.Ser747Arg | |
| NM_001008537.2:c.2241C>A | NP_001008537.1:p.Ser747Arg | |
| XM_011530935.1:c.2241C>A | XP_011529237.1:p.Ser747Arg | |
| NM_001008537.3:c.2241C>A MANE Select | NP_001008537.1:p.Ser747Arg |