Linked Data
ClinVar Variation Id:
1480813
ClinVar RCV Id:
RCV001994029
dbSNP Id:
rs1720726251
gnomAD v4:
4-55396380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55396380A>G , CM000666.2:g.55396380A>G | GRCh38 |
| NC_000004.11:g.56262547A>G , CM000666.1:g.56262547A>G | GRCh37 |
| NC_000004.10:g.55957304A>G | NCBI36 |
| NG_032881.1:g.5468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.191A>G MANE Select | ENSP00000370736.5:p.Glu64Gly | |
| ENST00000381334.9:c.191A>G | ENSP00000370736.5:p.Glu64Gly | |
| ENST00000506198.5:c.191A>G | ENSP00000425449.1:p.Glu64Gly | |
| ENST00000508404.5:c.191A>G | ENSP00000422639.1:p.Glu64Gly | |
| ENST00000514070.1:n.130A>G | ||
| NM_018475.4:c.191A>G | NP_060945.2:p.Glu64Gly | |
| NR_073070.1:n.468A>G | ||
| XM_011534394.1:c.191A>G | XP_011532696.1:p.Glu64Gly | |
| XM_011534394.3:c.191A>G | XP_011532696.1:p.Glu64Gly | |
| XM_017008412.1:c.-255A>G | XP_016863901.1:n.-255A>G | |
| XR_001741287.2:n.728A>G | ||
| NM_018475.5:c.191A>G MANE Select | NP_060945.2:p.Glu64Gly | |
| NR_073070.2:n.424A>G |