Linked Data
ClinVar Variation Id:
159556
dbSNP Id:
rs376390125
ExAC:
X:99657779 G / A
gnomAD v2:
X-99657779-G-A
gnomAD v3:
X-100402781-G-A
gnomAD v4:
X-100402781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100402781G>A , CM000685.2:g.100402781G>A | GRCh38 |
| NC_000023.10:g.99657779G>A , CM000685.1:g.99657779G>A | GRCh37 |
| NC_000023.9:g.99544435G>A | NCBI36 |
| NG_021319.1:g.12493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636150.1:c.66-206C>T | ENSP00000490463.1:n.66-206C>T | |
| ENST00000255531.8:c.2218C>T | ENSP00000255531.7:p.Arg740Cys | |
| ENST00000373034.8:c.2359C>T MANE Select | ENSP00000362125.4:p.Arg787Cys | |
| ENST00000420881.6:c.2218C>T | ENSP00000400327.2:p.Arg740Cys | |
| NM_001105243.1:c.2218C>T | NP_001098713.1:p.Arg740Cys | |
| NM_001184880.1:c.2359C>T | NP_001171809.1:p.Arg787Cys | |
| NM_020766.2:c.2218C>T | NP_065817.2:p.Arg740Cys | |
| XM_011530997.1:c.2359C>T | XP_011529299.1:p.Arg787Cys | |
| XM_011530997.2:c.2359C>T | XP_011529299.1:p.Arg787Cys | |
| NM_001105243.2:c.2218C>T | NP_001098713.1:p.Arg740Cys | |
| NM_001184880.2:c.2359C>T MANE Select | NP_001171809.1:p.Arg787Cys | |
| NM_020766.3:c.2218C>T | NP_065817.2:p.Arg740Cys |