Linked Data
ClinVar Variation Id:
2712613
ClinVar RCV Id:
RCV003524317
dbSNP Id:
rs901457066
gnomAD v2:
19-41928883-G-A
gnomAD v3:
19-41422978-G-A
gnomAD v4:
19-41422978-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422978G>A , CM000681.2:g.41422978G>A | GRCh38 |
| NC_000019.9:g.41928883G>A , CM000681.1:g.41928883G>A | GRCh37 |
| NC_000019.8:g.46620723G>A | NCBI36 |
| NG_013004.1:g.30190G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-20G>A MANE Select | ENSP00000269980.2:n.996-20G>A | |
| ENST00000269980.6:c.996-20G>A | ENSP00000269980.2:n.996-20G>A | |
| ENST00000457836.6:c.985G>A | ENSP00000416000.2:p.Gly329Ser | |
| ENST00000540732.3:c.1098-20G>A | ENSP00000443246.1:n.1098-20G>A | |
| ENST00000542943.5:c.909-20G>A | ENSP00000440345.1:n.909-20G>A | |
| ENST00000595085.5:c.922+281G>A | ENSP00000471150.2:n.922+281G>A | |
| NM_000709.3:c.996-20G>A | NP_000700.1:n.996-20G>A | |
| NM_001164783.1:c.993-20G>A | NP_001158255.1:n.993-20G>A | |
| NM_000709.4:c.996-20G>A MANE Select | NP_000700.1:n.996-20G>A | |
| NM_001164783.2:c.993-20G>A | NP_001158255.1:n.993-20G>A |