Linked Data
ClinVar Variation Id:
209090
ClinVar RCV Id:
RCV000191029
dbSNP Id:
rs797045166
gnomAD v4:
22-20990474-G-A
PubMed:
PMID:25795793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20990474G>A , CM000684.2:g.20990474G>A | GRCh38 |
| NC_000022.10:g.21344763G>A , CM000684.1:g.21344763G>A | GRCh37 |
| NC_000022.9:g.19674763G>A | NCBI36 |
| NG_034193.1:g.13206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.740G>A | ENSP00000515073.1:p.Ser247Asn | |
| ENST00000642151.1:c.571G>A | ||
| ENST00000644435.1:c.562G>A | ||
| ENST00000646124.2:c.740G>A MANE Select | ENSP00000496779.1:p.Ser247Asn | |
| ENST00000646506.1:n.319G>A | ||
| ENST00000215739.12:c.740G>A | ENSP00000215739.8:p.Ser247Asn | |
| ENST00000414985.5:c.*306G>A | ENSP00000397247.1:n.*306G>A | |
| ENST00000479606.5:n.886G>A | ||
| ENST00000480895.1:n.436G>A | ||
| ENST00000497716.5:n.123G>A | ||
| NM_006767.3:c.740G>A | NP_006758.2:p.Ser247Asn | |
| NM_006767.4:c.740G>A MANE Select | NP_006758.2:p.Ser247Asn |