Linked Data
ClinVar Variation Id:
1685930
ClinVar RCV Id:
RCV002250097
dbSNP Id:
rs2128838188
gnomAD v4:
8-19954269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954269G>A , CM000670.2:g.19954269G>A | GRCh38 |
| NC_000008.10:g.19811780G>A , CM000670.1:g.19811780G>A | GRCh37 |
| NC_000008.9:g.19856060G>A | NCBI36 |
| NG_008855.1:g.20199G>A | |
| NG_008855.2:g.57553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.691G>A MANE Select | ENSP00000497642.1:p.Asp231Asn | |
| ENST00000311322.8:c.691G>A | ENSP00000309757.6:p.Asp231Asn | |
| NM_000237.2:c.691G>A | NP_000228.1:p.Asp231Asn | |
| NM_000237.3:c.691G>A MANE Select | NP_000228.1:p.Asp231Asn |