Linked Data
ClinVar Variation Id:
362377
dbSNP Id:
rs150268016
ExAC:
8:17919816 T / A
gnomAD v2:
8-17919816-T-A
gnomAD v3:
8-18062307-T-A
gnomAD v4:
8-18062307-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18062307T>A , CM000670.2:g.18062307T>A | GRCh38 |
| NC_000008.10:g.17919816T>A , CM000670.1:g.17919816T>A | GRCh37 |
| NC_000008.9:g.17964096T>A | NCBI36 |
| NG_008985.1:g.27692A>T | |
| NG_008985.2:g.27692A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.668A>T | ENSP00000371152.4:p.Tyr223Phe | |
| ENST00000517409.2:n.557A>T | ||
| ENST00000518746.2:n.1541A>T | ||
| ENST00000519545.6:n.637A>T | ||
| ENST00000520781.6:c.545A>T | ENSP00000427751.1:p.Tyr182Phe | |
| ENST00000635756.1:c.42A>T | ||
| ENST00000635944.1:c.*456A>T | ENSP00000490195.1:n.*456A>T | |
| ENST00000635998.1:c.620A>T | ENSP00000490506.1:p.Tyr207Phe | |
| ENST00000636009.1:c.477A>T | ENSP00000489988.1:n.477A>T | |
| ENST00000636033.1:c.*456A>T | ENSP00000489617.1:n.*456A>T | |
| ENST00000636050.1:c.*463A>T | ENSP00000490562.1:n.*463A>T | |
| ENST00000636128.1:c.383-849A>T | ENSP00000489789.1:n.383-849A>T | |
| ENST00000636160.1:c.*512A>T | ENSP00000489651.1:n.*512A>T | |
| ENST00000636171.1:c.563A>T | ENSP00000489761.1:p.Tyr188Phe | |
| ENST00000636455.1:c.668A>T | ENSP00000490502.1:p.Tyr223Phe | |
| ENST00000636494.1:c.*400A>T | ENSP00000490388.1:n.*400A>T | |
| ENST00000636563.1:n.282A>T | ||
| ENST00000636577.1:c.560A>T | ENSP00000490027.1:p.Tyr187Phe | |
| ENST00000636691.1:c.425A>T | ENSP00000490725.1:p.Tyr142Phe | |
| ENST00000636701.1:c.*271A>T | ENSP00000489800.1:n.*271A>T | |
| ENST00000636719.1:n.414A>T | ||
| ENST00000636815.1:c.537A>T | ||
| ENST00000636920.1:c.*456A>T | ENSP00000490437.1:n.*456A>T | |
| ENST00000636997.1:c.533A>T | ENSP00000490093.1:p.Tyr178Phe | |
| ENST00000637013.1:c.*988A>T | ENSP00000490596.1:n.*988A>T | |
| ENST00000637014.1:n.489A>T | ||
| ENST00000637095.1:c.*400A>T | ENSP00000490415.1:n.*400A>T | |
| ENST00000637244.1:c.*1138A>T | ENSP00000490188.1:n.*1138A>T | |
| ENST00000637343.1:n.2057A>T | ||
| ENST00000637429.1:c.*832A>T | ENSP00000490522.1:n.*832A>T | |
| ENST00000637484.1:c.*582A>T | ENSP00000490837.1:n.*582A>T | |
| ENST00000637528.1:c.557A>T | ENSP00000490801.1:p.Tyr186Phe | |
| ENST00000637609.1:n.3341A>T | ||
| ENST00000637636.1:c.614A>T | ENSP00000490112.1:p.Tyr205Phe | |
| ENST00000637718.1:c.425A>T | ENSP00000490133.1:p.Tyr142Phe | |
| ENST00000637790.2:c.620A>T MANE Select | ENSP00000490272.1:p.Tyr207Phe | |
| ENST00000637857.1:n.221A>T | ||
| ENST00000637922.1:c.425A>T | ENSP00000490071.1:p.Tyr142Phe | |
| ENST00000637991.1:c.593A>T | ENSP00000489901.1:p.Tyr198Phe | |
| ENST00000638028.1:n.837A>T | ||
| ENST00000638069.1:n.676A>T | ||
| ENST00000262097.10:c.620A>T | ENSP00000262097.6:p.Tyr207Phe | |
| ENST00000314146.10:c.602A>T | ENSP00000326970.10:p.Tyr201Phe | |
| ENST00000381733.8:c.668A>T | ENSP00000371152.4:p.Tyr223Phe | |
| ENST00000517409.1:n.557A>T | ||
| ENST00000519468.5:n.449A>T | ||
| ENST00000519545.5:n.634A>T | ||
| ENST00000520781.5:c.545A>T | ENSP00000427751.1:p.Tyr182Phe | |
| ENST00000523593.5:n.473A>T | ||
| NM_001127505.1:c.602A>T | NP_001120977.1:p.Tyr201Phe | |
| NM_001127505.2:c.602A>T | NP_001120977.1:p.Tyr201Phe | |
| NM_004315.4:c.668A>T | NP_004306.3:p.Tyr223Phe | |
| NM_004315.5:c.668A>T | NP_004306.3:p.Tyr223Phe | |
| NM_177924.3:c.620A>T | NP_808592.2:p.Tyr207Phe | |
| NM_177924.4:c.620A>T | NP_808592.2:p.Tyr207Phe | |
| XM_005273504.2:c.554A>T | XP_005273561.1:p.Tyr185Phe | |
| NM_001363743.1:c.425A>T | NP_001350672.1:p.Tyr142Phe | |
| XM_005273504.3:c.554A>T | XP_005273561.1:p.Tyr185Phe | |
| NM_177924.5:c.620A>T MANE Select | NP_808592.2:p.Tyr207Phe | |
| NM_001127505.3:c.602A>T | NP_001120977.1:p.Tyr201Phe | |
| NM_001363743.2:c.425A>T | NP_001350672.1:p.Tyr142Phe | |
| NM_004315.6:c.668A>T | NP_004306.3:p.Tyr223Phe |