Linked Data
ClinVar Variation Id:
207185
ClinVar RCV Id:
RCV000189347
RCV002517016
RCV003445635
RCV003445637
RCV003445633
RCV003445634
RCV003445636
RCV003987435
dbSNP Id:
rs796053245
gnomAD v2:
1-43408908-C-A
gnomAD v3:
1-42943237-C-A
gnomAD v4:
1-42943237-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943237C>A , CM000663.2:g.42943237C>A | GRCh38 |
| NC_000001.10:g.43408908C>A , CM000663.1:g.43408908C>A | GRCh37 |
| NC_000001.9:g.43181495C>A | NCBI36 |
| NG_008232.1:g.20940G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.103G>T MANE Select | ENSP00000416293.2:p.Ala35Ser | |
| ENST00000674765.1:c.103G>T | ENSP00000501811.1:p.Ala35Ser | |
| ENST00000675112.1:n.126G>T | ||
| ENST00000372500.4:c.19-12031G>T | ENSP00000361578.4:n.19-12031G>T | |
| ENST00000415851.6:n.320G>T | ||
| ENST00000426263.7:c.103G>T | ENSP00000416293.2:p.Ala35Ser | |
| ENST00000475162.3:c.2G>T | ||
| ENST00000625233.2:n.311G>T | ||
| ENST00000628173.1:n.322G>T | ||
| ENST00000630287.2:c.103G>T | ENSP00000486694.1:p.Ala35Ser | |
| ENST00000630821.1:n.320G>T | ||
| NM_006516.2:c.103G>T | NP_006507.2:p.Ala35Ser | |
| NM_006516.3:c.103G>T | NP_006507.2:p.Ala35Ser | |
| NM_006516.4:c.103G>T MANE Select | NP_006507.2:p.Ala35Ser |