Linked Data
ClinVar Variation Id:
560432
ClinVar RCV Id:
RCV000678530
dbSNP Id:
rs782473510
ExAC:
X:49074425 C / T
gnomAD v2:
X-49074425-C-T
gnomAD v3:
X-49217966-C-T
gnomAD v4:
X-49217966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217966C>T , CM000685.2:g.49217966C>T | GRCh38 |
| NC_000023.10:g.49074425C>T , CM000685.1:g.49074425C>T | GRCh37 |
| NC_000023.9:g.48961369C>T | NCBI36 |
| NG_009095.2:g.20401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2968G>A MANE Select | ENSP00000321618.6:p.Gly990Arg | |
| ENST00000323022.9:c.2968G>A | ENSP00000321618.5:p.Gly990Arg | |
| ENST00000376251.5:c.2806G>A | ENSP00000365427.1:p.Gly936Arg | |
| ENST00000376265.2:c.3001G>A | ENSP00000365441.2:p.Gly1001Arg | |
| NM_001256789.2:c.2968G>A | NP_001243718.1:p.Gly990Arg | |
| NM_001256790.2:c.2806G>A | NP_001243719.1:p.Gly936Arg | |
| NM_005183.3:c.3001G>A | NP_005174.2:p.Gly1001Arg | |
| XM_011543983.1:c.2806G>A | XP_011542285.1:p.Gly936Arg | |
| XM_011543983.2:c.2806G>A | XP_011542285.1:p.Gly936Arg | |
| XM_017029836.1:c.235G>A | XP_016885325.1:p.Gly79Arg | |
| NM_001256789.3:c.2968G>A MANE Select | NP_001243718.1:p.Gly990Arg | |
| NM_001256790.3:c.2806G>A | NP_001243719.1:p.Gly936Arg | |
| NM_005183.4:c.3001G>A | NP_005174.2:p.Gly1001Arg |