Linked Data
dbSNP Id:
rs763341700
ExAC:
8:100729523 G / T
gnomAD v2:
8-100729523-G-T
gnomAD v4:
8-99717295-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99717295G>T , CM000670.2:g.99717295G>T | GRCh38 |
| NC_000008.10:g.100729523G>T , CM000670.1:g.100729523G>T | GRCh37 |
| NC_000008.9:g.100798699G>T | NCBI36 |
| NG_007098.2:g.709030G>T , LRG_351:g.709030G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.6654G>T | ENSP00000507923.1:p.Trp2218Cys | |
| ENST00000682358.1:n.6724G>T | ||
| ENST00000683334.1:c.*2336G>T | ENSP00000507369.1:n.*2336G>T | |
| ENST00000357162.7:c.6579G>T MANE Select | ENSP00000349685.2:p.Trp2193Cys | |
| ENST00000358544.7:c.6654G>T MANE Plus Clinical | ENSP00000351346.2:p.Trp2218Cys | |
| ENST00000357162.6:c.6579G>T | ENSP00000349685.2:p.Trp2193Cys | |
| ENST00000358544.6:c.6654G>T | ENSP00000351346.2:p.Trp2218Cys | |
| NM_017890.4:c.6654G>T , LRG_351t1:c.6654G>T | NP_060360.3:p.Trp2218Cys | |
| NM_152564.4:c.6579G>T , LRG_351t2:c.6579G>T | NP_689777.3:p.Trp2193Cys | |
| XM_005250800.2:c.6654G>T | XP_005250857.1:p.Trp2218Cys | |
| XM_005250801.3:c.6654G>T | XP_005250858.1:p.Trp2218Cys | |
| XM_011516848.1:c.6651G>T | XP_011515150.1:p.Trp2217Cys | |
| XM_011516849.1:c.6576G>T | XP_011515151.1:p.Trp2192Cys | |
| XM_011516850.1:c.6276G>T | XP_011515152.1:p.Trp2092Cys | |
| XM_011516851.1:c.3540G>T | XP_011515153.1:p.Trp1180Cys | |
| XM_011516852.1:c.3540G>T | XP_011515154.1:p.Trp1180Cys | |
| XM_011516853.1:c.6654G>T | XP_011515155.1:p.Trp2218Cys | |
| XM_011516854.1:c.2433G>T | XP_011515156.1:p.Trp811Cys | |
| XM_005250800.3:c.6654G>T | XP_005250857.1:p.Trp2218Cys | |
| XM_005250801.5:c.6654G>T | XP_005250858.1:p.Trp2218Cys | |
| XM_011516848.2:c.6651G>T | XP_011515150.1:p.Trp2217Cys | |
| XM_011516849.2:c.6576G>T | XP_011515151.1:p.Trp2192Cys | |
| XM_011516850.2:c.6276G>T | XP_011515152.1:p.Trp2092Cys | |
| XM_011516851.2:c.3540G>T | XP_011515153.1:p.Trp1180Cys | |
| XM_011516852.2:c.3540G>T | XP_011515154.1:p.Trp1180Cys | |
| XM_011516853.2:c.6654G>T | XP_011515155.1:p.Trp2218Cys | |
| XM_011516854.2:c.2433G>T | XP_011515156.1:p.Trp811Cys | |
| XM_017013109.1:c.6459G>T | XP_016868598.1:p.Trp2153Cys | |
| XM_017013111.1:c.3540G>T | XP_016868600.1:p.Trp1180Cys | |
| XM_017013112.1:c.2211G>T | XP_016868601.1:p.Trp737Cys | |
| XM_024447074.1:c.5439G>T | XP_024302842.1:p.Trp1813Cys | |
| NM_017890.5:c.6654G>T MANE Plus Clinical | NP_060360.3:p.Trp2218Cys | |
| NM_152564.5:c.6579G>T MANE Select | NP_689777.3:p.Trp2193Cys |