Linked Data
ClinVar Variation Id:
2870984
ClinVar RCV Id:
RCV003623558
MyVariant Identifiers:
chrX:g.43591078G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731831G>A , CM000685.2:g.43731831G>A | GRCh38 |
| NC_000023.10:g.43591078G>A , CM000685.1:g.43591078G>A | GRCh37 |
| NC_000023.9:g.43476022G>A | NCBI36 |
| NG_008957.2:g.80671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.534G>A | ENSP00000440846.1:p.Lys178= | |
| ENST00000686683.1:c.243G>A | ENSP00000509063.1:p.Lys81= | |
| ENST00000686980.1:n.1065G>A | ||
| ENST00000688006.1:c.534G>A | ENSP00000510311.1:p.Lys178= | |
| ENST00000688859.1:n.489G>A | ||
| ENST00000689087.1:c.534G>A | ENSP00000508997.1:p.Lys178= | |
| ENST00000693128.1:c.828G>A | ENSP00000508493.1:p.Lys276= | |
| ENST00000338702.4:c.933G>A MANE Select | ENSP00000340684.3:p.Lys311= | |
| ENST00000338702.3:c.933G>A | ENSP00000340684.3:p.Lys311= | |
| ENST00000542639.5:c.534G>A | ENSP00000440846.1:p.Lys178= | |
| NM_000240.3:c.933G>A | NP_000231.1:p.Lys311= | |
| NM_001270458.1:c.534G>A | NP_001257387.1:p.Lys178= | |
| NM_000240.4:c.933G>A MANE Select | NP_000231.1:p.Lys311= | |
| NM_001270458.2:c.534G>A | NP_001257387.1:p.Lys178= |