Linked Data
ClinVar Variation Id:
2197603
ClinVar RCV Id:
RCV002637824
dbSNP Id:
rs1430002498
gnomAD v3:
19-7528189-G-A
gnomAD v4:
19-7528189-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528189G>A , CM000681.2:g.7528189G>A | GRCh38 |
| NC_000019.9:g.7593075G>A , CM000681.1:g.7593075G>A | GRCh37 |
| NC_000019.8:g.7499075G>A | NCBI36 |
| NG_015806.1:g.10580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.809G>A MANE Select | ENSP00000264079.5:p.Arg270Gln | |
| ENST00000264079.10:c.809G>A | ENSP00000264079.5:p.Arg270Gln | |
| ENST00000394321.9:n.1124G>A | ||
| NM_020533.2:c.809G>A | NP_065394.1:p.Arg270Gln | |
| NM_020533.3:c.809G>A MANE Select | NP_065394.1:p.Arg270Gln |