Linked Data
ClinVar Variation Id:
951653
ClinVar RCV Id:
RCV001223617
dbSNP Id:
rs121434373
ExAC:
19:13007063 G / A
gnomAD v2:
19-13007063-G-A
gnomAD v3:
19-12896249-G-A
gnomAD v4:
19-12896249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896249G>A , CM000681.2:g.12896249G>A | GRCh38 |
| NC_000019.9:g.13007063G>A , CM000681.1:g.13007063G>A | GRCh37 |
| NC_000019.8:g.12868063G>A | NCBI36 |
| NG_009292.1:g.10090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.680G>A MANE Select | ENSP00000222214.4:p.Arg227Gln | |
| ENST00000222214.9:c.680G>A | ENSP00000222214.4:p.Arg227Gln | |
| ENST00000421816.6:n.658G>A | ||
| ENST00000585420.5:n.1010G>A | ||
| ENST00000590530.5:c.*120G>A | ENSP00000468452.1:n.*120G>A | |
| ENST00000591043.1:n.716G>A | ||
| ENST00000591470.5:c.680G>A | ENSP00000466845.1:p.Arg227Gln | |
| NM_000159.3:c.680G>A | NP_000150.1:p.Arg227Gln | |
| NM_013976.3:c.680G>A | NP_039663.1:p.Arg227Gln | |
| NR_102316.1:n.843G>A | ||
| NR_102317.1:n.1061G>A | ||
| XM_006722721.2:c.680G>A | XP_006722784.1:p.Arg227Gln | |
| XM_011527899.1:c.680G>A | XP_011526201.1:p.Arg227Gln | |
| XM_011527900.1:c.680G>A | XP_011526202.1:p.Arg227Gln | |
| XM_011527899.2:c.680G>A | XP_011526201.1:p.Arg227Gln | |
| XM_011527900.2:c.680G>A | XP_011526202.1:p.Arg227Gln | |
| XM_017026580.1:c.680G>A | XP_016882069.1:p.Arg227Gln | |
| NM_000159.4:c.680G>A MANE Select | NP_000150.1:p.Arg227Gln | |
| NM_013976.4:c.680G>A | NP_039663.1:p.Arg227Gln | |
| NM_013976.5:c.680G>A | NP_039663.1:p.Arg227Gln |