Linked Data
ClinVar Variation Id:
166776
dbSNP Id:
rs139409733
ExAC:
X:49065081 C / A
gnomAD v2:
X-49065081-C-A
gnomAD v3:
X-49208621-C-A
gnomAD v4:
X-49208621-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49208621C>A , CM000685.2:g.49208621C>A | GRCh38 |
| NC_000023.10:g.49065081C>A , CM000685.1:g.49065081C>A | GRCh37 |
| NC_000023.9:g.48952025C>A | NCBI36 |
| NG_009095.2:g.29746G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.5017G>T MANE Select | ENSP00000321618.6:p.Gly1673Trp | |
| ENST00000323022.9:c.5017G>T | ENSP00000321618.5:p.Gly1673Trp | |
| ENST00000376251.5:c.4855G>T | ENSP00000365427.1:p.Gly1619Trp | |
| ENST00000376265.2:c.5050G>T | ENSP00000365441.2:p.Gly1684Trp | |
| NM_001256789.2:c.5017G>T | NP_001243718.1:p.Gly1673Trp | |
| NM_001256790.2:c.4855G>T | NP_001243719.1:p.Gly1619Trp | |
| NM_005183.3:c.5050G>T | NP_005174.2:p.Gly1684Trp | |
| XM_011543983.1:c.4834G>T | XP_011542285.1:p.Gly1612Trp | |
| XM_011543983.2:c.4834G>T | XP_011542285.1:p.Gly1612Trp | |
| XM_017029836.1:c.2263G>T | XP_016885325.1:p.Gly755Trp | |
| NM_001256789.3:c.5017G>T MANE Select | NP_001243718.1:p.Gly1673Trp | |
| NM_001256790.3:c.4855G>T | NP_001243719.1:p.Gly1619Trp | |
| NM_005183.4:c.5050G>T | NP_005174.2:p.Gly1684Trp |