Linked Data
ClinVar Variation Id:
1109019
ClinVar RCV Id:
RCV001434719
dbSNP Id:
rs2130941995
gnomAD v4:
8-99861879-G-A
MyVariant Identifiers:
chr8:g.100874107G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861879G>A , CM000670.2:g.99861879G>A | GRCh38 |
| NC_000008.10:g.100874107G>A , CM000670.1:g.100874107G>A | GRCh37 |
| NC_000008.9:g.100943283G>A | NCBI36 |
| NG_007098.2:g.853614G>A , LRG_351:g.853614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*317G>A | ENSP00000507923.1:n.*317G>A | |
| ENST00000682358.1:n.11293G>A | ||
| ENST00000683334.1:c.*6905G>A | ENSP00000507369.1:n.*6905G>A | |
| ENST00000357162.7:c.11148G>A MANE Select | ENSP00000349685.2:p.Arg3716= | |
| ENST00000358544.7:c.11223G>A MANE Plus Clinical | ENSP00000351346.2:p.Arg3741= | |
| ENST00000357162.6:c.11148G>A | ENSP00000349685.2:p.Arg3716= | |
| ENST00000358544.6:c.11223G>A | ENSP00000351346.2:p.Arg3741= | |
| NM_017890.4:c.11223G>A , LRG_351t1:c.11223G>A | NP_060360.3:p.Arg3741= | |
| NM_152564.4:c.11148G>A , LRG_351t2:c.11148G>A | NP_689777.3:p.Arg3716= | |
| XM_005250800.2:c.11223G>A | XP_005250857.1:p.Arg3741= | |
| XM_005250801.3:c.11223G>A | XP_005250858.1:p.Arg3741= | |
| XM_011516848.1:c.11220G>A | XP_011515150.1:p.Arg3740= | |
| XM_011516849.1:c.11145G>A | XP_011515151.1:p.Arg3715= | |
| XM_011516850.1:c.10845G>A | XP_011515152.1:p.Arg3615= | |
| XM_011516851.1:c.8109G>A | XP_011515153.1:p.Arg2703= | |
| XM_011516852.1:c.8109G>A | XP_011515154.1:p.Arg2703= | |
| XM_011516854.1:c.7002G>A | XP_011515156.1:p.Arg2334= | |
| XM_005250800.3:c.11223G>A | XP_005250857.1:p.Arg3741= | |
| XM_005250801.5:c.11223G>A | XP_005250858.1:p.Arg3741= | |
| XM_011516848.2:c.11220G>A | XP_011515150.1:p.Arg3740= | |
| XM_011516849.2:c.11145G>A | XP_011515151.1:p.Arg3715= | |
| XM_011516850.2:c.10845G>A | XP_011515152.1:p.Arg3615= | |
| XM_011516851.2:c.8109G>A | XP_011515153.1:p.Arg2703= | |
| XM_011516852.2:c.8109G>A | XP_011515154.1:p.Arg2703= | |
| XM_011516854.2:c.7002G>A | XP_011515156.1:p.Arg2334= | |
| XM_017013109.1:c.11028G>A | XP_016868598.1:p.Arg3676= | |
| XM_017013111.1:c.8109G>A | XP_016868600.1:p.Arg2703= | |
| XM_017013112.1:c.6780G>A | XP_016868601.1:p.Arg2260= | |
| XM_024447074.1:c.10008G>A | XP_024302842.1:p.Arg3336= | |
| NM_017890.5:c.11223G>A MANE Plus Clinical | NP_060360.3:p.Arg3741= | |
| NM_152564.5:c.11148G>A MANE Select | NP_689777.3:p.Arg3716= |