Linked Data
ClinVar Variation Id:
1970849
ClinVar RCV Id:
RCV002735587
dbSNP Id:
rs782351842
ExAC:
X:49072945 G / C
gnomAD v2:
X-49072945-G-C
gnomAD v3:
X-49216485-G-C
gnomAD v4:
X-49216485-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216485G>C , CM000685.2:g.49216485G>C | GRCh38 |
| NC_000023.10:g.49072945G>C , CM000685.1:g.49072945G>C | GRCh37 |
| NC_000023.9:g.48959889G>C | NCBI36 |
| NG_009095.2:g.21882C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3133C>G MANE Select | ENSP00000321618.6:p.Leu1045Val | |
| ENST00000323022.9:c.3133C>G | ENSP00000321618.5:p.Leu1045Val | |
| ENST00000376251.5:c.2971C>G | ENSP00000365427.1:p.Leu991Val | |
| ENST00000376265.2:c.3166C>G | ENSP00000365441.2:p.Leu1056Val | |
| NM_001256789.2:c.3133C>G | NP_001243718.1:p.Leu1045Val | |
| NM_001256790.2:c.2971C>G | NP_001243719.1:p.Leu991Val | |
| NM_005183.3:c.3166C>G | NP_005174.2:p.Leu1056Val | |
| XM_011543983.1:c.2971C>G | XP_011542285.1:p.Leu991Val | |
| XM_011543983.2:c.2971C>G | XP_011542285.1:p.Leu991Val | |
| XM_017029836.1:c.400C>G | XP_016885325.1:p.Leu134Val | |
| NM_001256789.3:c.3133C>G MANE Select | NP_001243718.1:p.Leu1045Val | |
| NM_001256790.3:c.2971C>G | NP_001243719.1:p.Leu991Val | |
| NM_005183.4:c.3166C>G | NP_005174.2:p.Leu1056Val |