Linked Data
dbSNP Id:
rs146228448
gnomAD v2:
8-100829702-T-C
gnomAD v3:
8-99817474-T-C
gnomAD v4:
8-99817474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99817474T>C , CM000670.2:g.99817474T>C | GRCh38 |
| NC_000008.10:g.100829702T>C , CM000670.1:g.100829702T>C | GRCh37 |
| NC_000008.9:g.100898878T>C | NCBI36 |
| NG_007098.2:g.809209T>C , LRG_351:g.809209T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.8173-66T>C | ENSP00000507923.1:n.8173-66T>C | |
| ENST00000682358.1:n.8243-66T>C | ||
| ENST00000683334.1:c.*3855-66T>C | ENSP00000507369.1:n.*3855-66T>C | |
| ENST00000357162.7:c.8098-66T>C MANE Select | ENSP00000349685.2:n.8098-66T>C | |
| ENST00000358544.7:c.8173-66T>C MANE Plus Clinical | ENSP00000351346.2:n.8173-66T>C | |
| ENST00000357162.6:c.8098-66T>C | ENSP00000349685.2:n.8098-66T>C | |
| ENST00000358544.6:c.8173-66T>C | ENSP00000351346.2:n.8173-66T>C | |
| NM_017890.4:c.8173-66T>C , LRG_351t1:c.8173-66T>C | NP_060360.3:n.8173-66T>C | |
| NM_152564.4:c.8098-66T>C , LRG_351t2:c.8098-66T>C | NP_689777.3:n.8098-66T>C | |
| XM_005250800.2:c.8173-66T>C | XP_005250857.1:n.8173-66T>C | |
| XM_005250801.3:c.8173-66T>C | XP_005250858.1:n.8173-66T>C | |
| XM_011516848.1:c.8170-66T>C | XP_011515150.1:n.8170-66T>C | |
| XM_011516849.1:c.8095-66T>C | XP_011515151.1:n.8095-66T>C | |
| XM_011516850.1:c.7795-66T>C | XP_011515152.1:n.7795-66T>C | |
| XM_011516851.1:c.5059-66T>C | XP_011515153.1:n.5059-66T>C | |
| XM_011516852.1:c.5059-66T>C | XP_011515154.1:n.5059-66T>C | |
| XM_011516854.1:c.3952-66T>C | XP_011515156.1:n.3952-66T>C | |
| XM_005250800.3:c.8173-66T>C | XP_005250857.1:n.8173-66T>C | |
| XM_005250801.5:c.8173-66T>C | XP_005250858.1:n.8173-66T>C | |
| XM_011516848.2:c.8170-66T>C | XP_011515150.1:n.8170-66T>C | |
| XM_011516849.2:c.8095-66T>C | XP_011515151.1:n.8095-66T>C | |
| XM_011516850.2:c.7795-66T>C | XP_011515152.1:n.7795-66T>C | |
| XM_011516851.2:c.5059-66T>C | XP_011515153.1:n.5059-66T>C | |
| XM_011516852.2:c.5059-66T>C | XP_011515154.1:n.5059-66T>C | |
| XM_011516854.2:c.3952-66T>C | XP_011515156.1:n.3952-66T>C | |
| XM_017013109.1:c.7978-66T>C | XP_016868598.1:n.7978-66T>C | |
| XM_017013111.1:c.5059-66T>C | XP_016868600.1:n.5059-66T>C | |
| XM_017013112.1:c.3730-66T>C | XP_016868601.1:n.3730-66T>C | |
| XM_024447074.1:c.6958-66T>C | XP_024302842.1:n.6958-66T>C | |
| NM_017890.5:c.8173-66T>C MANE Plus Clinical | NP_060360.3:n.8173-66T>C | |
| NM_152564.5:c.8098-66T>C MANE Select | NP_689777.3:n.8098-66T>C |