Linked Data
dbSNP Id:
rs781989178
ExAC:
X:154157054 G / A
gnomAD v2:
X-154157054-G-A
gnomAD v4:
X-154928779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928779G>A , CM000685.2:g.154928779G>A | GRCh38 |
| NC_000023.10:g.154157054G>A , CM000685.1:g.154157054G>A | GRCh37 |
| NC_000023.9:g.153810248G>A | NCBI36 |
| NG_011403.1:g.98945C>T | |
| NG_011403.2:g.98945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5011C>T MANE Select | ENSP00000353393.4:p.Arg1671Cys | |
| ENST00000360256.8:c.5011C>T | ENSP00000353393.4:p.Arg1671Cys | |
| NM_000132.3:c.5011C>T | NP_000123.1:p.Arg1671Cys | |
| XM_011531126.1:c.4906C>T | XP_011529428.1:p.Arg1636Cys | |
| NM_000132.4:c.5011C>T MANE Select | NP_000123.1:p.Arg1671Cys |