Linked Data
ClinVar Variation Id:
1405235
ClinVar RCV Id:
RCV001903650
dbSNP Id:
rs1431335293
gnomAD v2:
1-218520199-T-G
gnomAD v4:
1-218346857-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218346857T>G , CM000663.2:g.218346857T>G | GRCh38 |
| NC_000001.10:g.218520199T>G , CM000663.1:g.218520199T>G | GRCh37 |
| NC_000001.9:g.216586822T>G | NCBI36 |
| NG_027721.1:g.6524T>G | |
| NG_027721.2:g.6524T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.156T>G MANE Select | ENSP00000355897.4:p.Ser52Arg | |
| ENST00000366929.4:c.156T>G | ENSP00000355896.4:p.Ser52Arg | |
| ENST00000366930.8:c.156T>G | ENSP00000355897.4:p.Ser52Arg | |
| NM_001135599.2:c.156T>G | NP_001129071.1:p.Ser52Arg | |
| NM_003238.3:c.156T>G | NP_003229.1:p.Ser52Arg | |
| NM_001135599.3:c.156T>G | NP_001129071.1:p.Ser52Arg | |
| NM_003238.4:c.156T>G | NP_003229.1:p.Ser52Arg | |
| NR_138148.1:n.1574T>G | ||
| NR_138149.1:n.1574T>G | ||
| NM_003238.5:c.156T>G | NP_003229.1:p.Ser52Arg | |
| NM_003238.6:c.156T>G MANE Select | NP_003229.1:p.Ser52Arg | |
| NM_001135599.4:c.156T>G | NP_001129071.1:p.Ser52Arg | |
| NR_138148.2:n.1522T>G | ||
| NR_138149.2:n.1522T>G |