Linked Data
ClinVar Variation Id:
1611643
ClinVar RCV Id:
RCV002148169
dbSNP Id:
rs2130858464
gnomAD v4:
8-99832632-G-A
MyVariant Identifiers:
chr8:g.100844860G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99832632G>A , CM000670.2:g.99832632G>A | GRCh38 |
| NC_000008.10:g.100844860G>A , CM000670.1:g.100844860G>A | GRCh37 |
| NC_000008.9:g.100914036G>A | NCBI36 |
| NG_007098.2:g.824367G>A , LRG_351:g.824367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.9669G>A | ENSP00000507923.1:p.Arg3223= | |
| ENST00000682358.1:n.9739G>A | ||
| ENST00000683334.1:c.*5351G>A | ENSP00000507369.1:n.*5351G>A | |
| ENST00000357162.7:c.9594G>A MANE Select | ENSP00000349685.2:p.Arg3198= | |
| ENST00000358544.7:c.9669G>A MANE Plus Clinical | ENSP00000351346.2:p.Arg3223= | |
| ENST00000357162.6:c.9594G>A | ENSP00000349685.2:p.Arg3198= | |
| ENST00000358544.6:c.9669G>A | ENSP00000351346.2:p.Arg3223= | |
| NM_017890.4:c.9669G>A , LRG_351t1:c.9669G>A | NP_060360.3:p.Arg3223= | |
| NM_152564.4:c.9594G>A , LRG_351t2:c.9594G>A | NP_689777.3:p.Arg3198= | |
| XM_005250800.2:c.9669G>A | XP_005250857.1:p.Arg3223= | |
| XM_005250801.3:c.9669G>A | XP_005250858.1:p.Arg3223= | |
| XM_011516848.1:c.9666G>A | XP_011515150.1:p.Arg3222= | |
| XM_011516849.1:c.9591G>A | XP_011515151.1:p.Arg3197= | |
| XM_011516850.1:c.9291G>A | XP_011515152.1:p.Arg3097= | |
| XM_011516851.1:c.6555G>A | XP_011515153.1:p.Arg2185= | |
| XM_011516852.1:c.6555G>A | XP_011515154.1:p.Arg2185= | |
| XM_011516854.1:c.5448G>A | XP_011515156.1:p.Arg1816= | |
| XM_005250800.3:c.9669G>A | XP_005250857.1:p.Arg3223= | |
| XM_005250801.5:c.9669G>A | XP_005250858.1:p.Arg3223= | |
| XM_011516848.2:c.9666G>A | XP_011515150.1:p.Arg3222= | |
| XM_011516849.2:c.9591G>A | XP_011515151.1:p.Arg3197= | |
| XM_011516850.2:c.9291G>A | XP_011515152.1:p.Arg3097= | |
| XM_011516851.2:c.6555G>A | XP_011515153.1:p.Arg2185= | |
| XM_011516852.2:c.6555G>A | XP_011515154.1:p.Arg2185= | |
| XM_011516854.2:c.5448G>A | XP_011515156.1:p.Arg1816= | |
| XM_017013109.1:c.9474G>A | XP_016868598.1:p.Arg3158= | |
| XM_017013111.1:c.6555G>A | XP_016868600.1:p.Arg2185= | |
| XM_017013112.1:c.5226G>A | XP_016868601.1:p.Arg1742= | |
| XM_024447074.1:c.8454G>A | XP_024302842.1:p.Arg2818= | |
| NM_017890.5:c.9669G>A MANE Plus Clinical | NP_060360.3:p.Arg3223= | |
| NM_152564.5:c.9594G>A MANE Select | NP_689777.3:p.Arg3198= |