Linked Data
ClinVar Variation Id:
2971278
ClinVar RCV Id:
RCV003827460
dbSNP Id:
rs781783601
ExAC:
X:49072878 G / C
gnomAD v2:
X-49072878-G-C
gnomAD v4:
X-49216418-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216418G>C , CM000685.2:g.49216418G>C | GRCh38 |
| NC_000023.10:g.49072878G>C , CM000685.1:g.49072878G>C | GRCh37 |
| NC_000023.9:g.48959822G>C | NCBI36 |
| NG_009095.2:g.21949C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3200C>G MANE Select | ENSP00000321618.6:p.Ala1067Gly | |
| ENST00000323022.9:c.3200C>G | ENSP00000321618.5:p.Ala1067Gly | |
| ENST00000376251.5:c.3038C>G | ENSP00000365427.1:p.Ala1013Gly | |
| ENST00000376265.2:c.3233C>G | ENSP00000365441.2:p.Ala1078Gly | |
| NM_001256789.2:c.3200C>G | NP_001243718.1:p.Ala1067Gly | |
| NM_001256790.2:c.3038C>G | NP_001243719.1:p.Ala1013Gly | |
| NM_005183.3:c.3233C>G | NP_005174.2:p.Ala1078Gly | |
| XM_011543983.1:c.3038C>G | XP_011542285.1:p.Ala1013Gly | |
| XM_011543983.2:c.3038C>G | XP_011542285.1:p.Ala1013Gly | |
| XM_017029836.1:c.467C>G | XP_016885325.1:p.Ala156Gly | |
| NM_001256789.3:c.3200C>G MANE Select | NP_001243718.1:p.Ala1067Gly | |
| NM_001256790.3:c.3038C>G | NP_001243719.1:p.Ala1013Gly | |
| NM_005183.4:c.3233C>G | NP_005174.2:p.Ala1078Gly |