Linked Data
ClinVar Variation Id:
1122048
ClinVar RCV Id:
RCV001452572
dbSNP Id:
rs369756595
ExAC:
X:38226662 A / C
gnomAD v2:
X-38226662-A-C
gnomAD v3:
X-38367409-A-C
gnomAD v4:
X-38367409-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367409A>C , CM000685.2:g.38367409A>C | GRCh38 |
| NC_000023.10:g.38226662A>C , CM000685.1:g.38226662A>C | GRCh37 |
| NC_000023.9:g.38111606A>C | NCBI36 |
| NG_008471.1:g.19927A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.196A>C MANE Select | ENSP00000039007.4:p.Arg66= | |
| ENST00000643344.1:c.196A>C | ENSP00000496606.1:p.Arg66= | |
| ENST00000039007.4:c.196A>C | ENSP00000039007.4:p.Arg66= | |
| ENST00000465127.1:c.172-298712A>C | ENSP00000417050.1:n.172-298712A>C | |
| ENST00000488812.1:n.288A>C | ||
| NM_000531.5:c.196A>C | NP_000522.3:p.Arg66= | |
| XM_017029556.1:c.196A>C | XP_016885045.1:p.Arg66= | |
| NM_000531.6:c.196A>C MANE Select | NP_000522.3:p.Arg66= |