Linked Data
ClinVar Variation Id:
2957010
ClinVar RCV Id:
RCV003818697
dbSNP Id:
rs561186353
ExAC:
19:41916740 C / A
gnomAD v2:
19-41916740-C-A
gnomAD v3:
19-41410835-C-A
gnomAD v4:
19-41410835-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410835C>A , CM000681.2:g.41410835C>A | GRCh38 |
| NC_000019.9:g.41916740C>A , CM000681.1:g.41916740C>A | GRCh37 |
| NC_000019.8:g.46608580C>A | NCBI36 |
| NG_013004.1:g.18047C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.288+19C>A MANE Select | ENSP00000269980.2:n.288+19C>A | |
| ENST00000269980.6:c.288+19C>A | ENSP00000269980.2:n.288+19C>A | |
| ENST00000457836.6:c.222+19C>A | ENSP00000416000.2:n.222+19C>A | |
| ENST00000538423.5:n.327C>A | ||
| ENST00000540732.3:c.390+19C>A | ENSP00000443246.1:n.390+19C>A | |
| ENST00000541315.1:c.95+19C>A | ||
| ENST00000542943.5:c.288+19C>A | ENSP00000440345.1:n.288+19C>A | |
| ENST00000595085.5:c.288+19C>A | ENSP00000471150.2:n.288+19C>A | |
| ENST00000604424.1:n.549C>A | ||
| NM_000709.3:c.288+19C>A | NP_000700.1:n.288+19C>A | |
| NM_001164783.1:c.288+19C>A | NP_001158255.1:n.288+19C>A | |
| NM_000709.4:c.288+19C>A MANE Select | NP_000700.1:n.288+19C>A | |
| NM_001164783.2:c.288+19C>A | NP_001158255.1:n.288+19C>A |