Linked Data
dbSNP Id:
rs749399433
ExAC:
8:17918913 G / A
gnomAD v2:
8-17918913-G-A
gnomAD v4:
8-18061404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061404G>A , CM000670.2:g.18061404G>A | GRCh38 |
| NC_000008.10:g.17918913G>A , CM000670.1:g.17918913G>A | GRCh37 |
| NC_000008.9:g.17963193G>A | NCBI36 |
| NG_008985.1:g.28595C>T | |
| NG_008985.2:g.28595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.806C>T | ENSP00000371152.4:p.Thr269Ile | |
| ENST00000517409.2:n.726C>T | ||
| ENST00000518746.2:n.2444C>T | ||
| ENST00000520781.6:c.683C>T | ENSP00000427751.1:p.Thr228Ile | |
| ENST00000521542.2:n.66C>T | ||
| ENST00000635756.1:c.171C>T | ||
| ENST00000635944.1:c.*594C>T | ENSP00000490195.1:n.*594C>T | |
| ENST00000635998.1:c.758C>T | ENSP00000490506.1:p.Thr253Ile | |
| ENST00000636009.1:c.615C>T | ENSP00000489988.1:n.615C>T | |
| ENST00000636033.1:c.*594C>T | ENSP00000489617.1:n.*594C>T | |
| ENST00000636050.1:c.*601C>T | ENSP00000490562.1:n.*601C>T | |
| ENST00000636128.1:c.437C>T | ENSP00000489789.1:p.Thr146Ile | |
| ENST00000636160.1:c.*650C>T | ENSP00000489651.1:n.*650C>T | |
| ENST00000636171.1:c.701C>T | ENSP00000489761.1:p.Thr234Ile | |
| ENST00000636455.1:c.806C>T | ENSP00000490502.1:p.Thr269Ile | |
| ENST00000636494.1:c.*538C>T | ENSP00000490388.1:n.*538C>T | |
| ENST00000636563.1:n.420C>T | ||
| ENST00000636577.1:c.698C>T | ENSP00000490027.1:p.Thr233Ile | |
| ENST00000636691.1:c.563C>T | ENSP00000490725.1:p.Thr188Ile | |
| ENST00000636701.1:c.*409C>T | ENSP00000489800.1:n.*409C>T | |
| ENST00000636815.1:c.675C>T | ||
| ENST00000636920.1:c.*594C>T | ENSP00000490437.1:n.*594C>T | |
| ENST00000636997.1:c.671C>T | ENSP00000490093.1:p.Thr224Ile | |
| ENST00000637013.1:c.*1126C>T | ENSP00000490596.1:n.*1126C>T | |
| ENST00000637014.1:n.1165C>T | ||
| ENST00000637095.1:c.*538C>T | ENSP00000490415.1:n.*538C>T | |
| ENST00000637244.1:c.*1276C>T | ENSP00000490188.1:n.*1276C>T | |
| ENST00000637343.1:n.2195C>T | ||
| ENST00000637429.1:c.*970C>T | ENSP00000490522.1:n.*970C>T | |
| ENST00000637484.1:c.*720C>T | ENSP00000490837.1:n.*720C>T | |
| ENST00000637528.1:c.695C>T | ENSP00000490801.1:p.Thr232Ile | |
| ENST00000637609.1:n.3479C>T | ||
| ENST00000637636.1:c.752C>T | ENSP00000490112.1:p.Thr251Ile | |
| ENST00000637790.2:c.758C>T MANE Select | ENSP00000490272.1:p.Thr253Ile | |
| ENST00000637857.1:n.1124C>T | ||
| ENST00000637922.1:c.563C>T | ENSP00000490071.1:p.Thr188Ile | |
| ENST00000637991.1:c.731C>T | ENSP00000489901.1:p.Thr244Ile | |
| ENST00000638028.1:n.975C>T | ||
| ENST00000638069.1:n.1579C>T | ||
| ENST00000262097.10:c.758C>T | ENSP00000262097.6:p.Thr253Ile | |
| ENST00000314146.10:c.740C>T | ENSP00000326970.10:p.Thr247Ile | |
| ENST00000381733.8:c.806C>T | ENSP00000371152.4:p.Thr269Ile | |
| ENST00000518746.1:n.575C>T | ||
| ENST00000519468.5:n.587C>T | ||
| ENST00000520781.5:c.683C>T | ENSP00000427751.1:p.Thr228Ile | |
| ENST00000521542.1:n.471C>T | ||
| NM_001127505.1:c.740C>T | NP_001120977.1:p.Thr247Ile | |
| NM_001127505.2:c.740C>T | NP_001120977.1:p.Thr247Ile | |
| NM_004315.4:c.806C>T | NP_004306.3:p.Thr269Ile | |
| NM_004315.5:c.806C>T | NP_004306.3:p.Thr269Ile | |
| NM_177924.3:c.758C>T | NP_808592.2:p.Thr253Ile | |
| NM_177924.4:c.758C>T | NP_808592.2:p.Thr253Ile | |
| XM_005273504.2:c.692C>T | XP_005273561.1:p.Thr231Ile | |
| NM_001363743.1:c.563C>T | NP_001350672.1:p.Thr188Ile | |
| XM_005273504.3:c.692C>T | XP_005273561.1:p.Thr231Ile | |
| NM_177924.5:c.758C>T MANE Select | NP_808592.2:p.Thr253Ile | |
| NM_001127505.3:c.740C>T | NP_001120977.1:p.Thr247Ile | |
| NM_001363743.2:c.563C>T | NP_001350672.1:p.Thr188Ile | |
| NM_004315.6:c.806C>T | NP_004306.3:p.Thr269Ile |