Linked Data
ClinVar Variation Id:
370729
ClinVar RCV Id:
RCV000409408
dbSNP Id:
rs376456598
ExAC:
19:41916570 C / A
gnomAD v2:
19-41916570-C-A
gnomAD v3:
19-41410665-C-A
gnomAD v4:
19-41410665-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410665C>A , CM000681.2:g.41410665C>A | GRCh38 |
| NC_000019.9:g.41916570C>A , CM000681.1:g.41916570C>A | GRCh37 |
| NC_000019.8:g.46608410C>A | NCBI36 |
| NG_013004.1:g.17877C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.137C>A MANE Select | ENSP00000269980.2:p.Ser46Ter | |
| ENST00000269980.6:c.137C>A | ENSP00000269980.2:p.Ser46Ter | |
| ENST00000457836.6:c.71C>A | ENSP00000416000.2:p.Ser24Ter | |
| ENST00000538423.5:n.157C>A | ||
| ENST00000540732.3:c.239C>A | ENSP00000443246.1:p.Ser80Ter | |
| ENST00000542943.5:c.137C>A | ENSP00000440345.1:p.Ser46Ter | |
| ENST00000595085.5:c.137C>A | ENSP00000471150.2:p.Ser46Ter | |
| ENST00000604424.1:n.379C>A | ||
| NM_000709.3:c.137C>A | NP_000700.1:p.Ser46Ter | |
| NM_001164783.1:c.137C>A | NP_001158255.1:p.Ser46Ter | |
| NM_000709.4:c.137C>A MANE Select | NP_000700.1:p.Ser46Ter | |
| NM_001164783.2:c.137C>A | NP_001158255.1:p.Ser46Ter |