Linked Data
ClinVar Variation Id:
3060438
ClinVar RCV Id:
RCV003977378
dbSNP Id:
rs1799969
ExAC:
19:10394792 G / A
gnomAD v2:
19-10394792-G-A
gnomAD v3:
19-10284116-G-A
gnomAD v4:
19-10284116-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10284116G>A , CM000681.2:g.10284116G>A | GRCh38 |
| NC_000019.9:g.10394792G>A , CM000681.1:g.10394792G>A | GRCh37 |
| NC_000019.8:g.10255792G>A | NCBI36 |
| NG_007728.1:g.2143G>A | |
| NG_012083.1:g.18276G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264832.8:c.721G>A MANE Select | ENSP00000264832.2:p.Gly241Arg | |
| ENST00000264832.7:c.721G>A | ENSP00000264832.2:p.Gly241Arg | |
| ENST00000423829.2:c.68-13G>A | ENSP00000413124.2:n.68-13G>A | |
| NM_000201.2:c.721G>A | NP_000192.2:p.Gly241Arg | |
| NM_000201.3:c.721G>A MANE Select | NP_000192.2:p.Gly241Arg |