Linked Data
ClinVar Variation Id:
189011
ClinVar RCV Id:
RCV000169398
dbSNP Id:
rs786204626
gnomAD v2:
19-13008639-G-A
gnomAD v4:
19-12897825-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897825G>A , CM000681.2:g.12897825G>A | GRCh38 |
| NC_000019.9:g.13008639G>A , CM000681.1:g.13008639G>A | GRCh37 |
| NC_000019.8:g.12869639G>A | NCBI36 |
| NG_009292.1:g.11666G>A | |
| NG_033049.1:g.26448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1205G>A MANE Select | ENSP00000222214.4:p.Arg402Gln | |
| ENST00000222214.9:c.1205G>A | ENSP00000222214.4:p.Arg402Gln | |
| ENST00000585420.5:n.1535G>A | ||
| ENST00000590472.5:c.249G>A | ||
| ENST00000590530.5:c.*645G>A | ENSP00000468452.1:n.*645G>A | |
| ENST00000591043.1:n.1515G>A | ||
| ENST00000591050.1:c.172G>A | ||
| ENST00000591470.5:c.1205G>A | ENSP00000466845.1:p.Arg402Gln | |
| NM_000159.3:c.1205G>A | NP_000150.1:p.Arg402Gln | |
| NM_013976.3:c.1205G>A | NP_039663.1:p.Arg402Gln | |
| NR_102316.1:n.1368G>A | ||
| NR_102317.1:n.1586G>A | ||
| XM_006722721.2:c.1205G>A | XP_006722784.1:p.Arg402Gln | |
| XM_011527899.1:c.1205G>A | XP_011526201.1:p.Arg402Gln | |
| XM_011527900.1:c.1205G>A | XP_011526202.1:p.Arg402Gln | |
| XM_011527899.2:c.1205G>A | XP_011526201.1:p.Arg402Gln | |
| XM_011527900.2:c.1205G>A | XP_011526202.1:p.Arg402Gln | |
| XM_017026580.1:c.1205G>A | XP_016882069.1:p.Arg402Gln | |
| NM_000159.4:c.1205G>A MANE Select | NP_000150.1:p.Arg402Gln | |
| NM_013976.4:c.1205G>A | NP_039663.1:p.Arg402Gln | |
| NM_013976.5:c.1205G>A | NP_039663.1:p.Arg402Gln |