Linked Data
ClinVar Variation Id:
180642
ClinVar RCV Id:
RCV000157604
dbSNP Id:
rs794729663
gnomAD v4:
8-18059639-C-A
PubMed:
PMID:24164096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18059639C>A , CM000670.2:g.18059639C>A | GRCh38 |
| NC_000008.10:g.17917148C>A , CM000670.1:g.17917148C>A | GRCh37 |
| NC_000008.9:g.17961428C>A | NCBI36 |
| NG_008985.1:g.30360G>T | |
| NG_008985.2:g.30360G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.898G>T | ENSP00000371152.4:p.Gly300Ter | |
| ENST00000518746.2:n.2536G>T | ||
| ENST00000520781.6:c.775G>T | ENSP00000427751.1:p.Gly259Ter | |
| ENST00000521542.2:n.1831G>T | ||
| ENST00000635756.1:c.263G>T | ||
| ENST00000635944.1:c.*686G>T | ENSP00000490195.1:n.*686G>T | |
| ENST00000635998.1:c.850G>T | ENSP00000490506.1:p.Gly284Ter | |
| ENST00000636009.1:c.707G>T | ENSP00000489988.1:n.707G>T | |
| ENST00000636033.1:c.*686G>T | ENSP00000489617.1:n.*686G>T | |
| ENST00000636050.1:c.*693G>T | ENSP00000490562.1:n.*693G>T | |
| ENST00000636128.1:c.529G>T | ENSP00000489789.1:p.Gly177Ter | |
| ENST00000636160.1:c.*742G>T | ENSP00000489651.1:n.*742G>T | |
| ENST00000636171.1:c.793G>T | ENSP00000489761.1:p.Gly265Ter | |
| ENST00000636455.1:c.898G>T | ENSP00000490502.1:p.Gly300Ter | |
| ENST00000636494.1:c.*630G>T | ENSP00000490388.1:n.*630G>T | |
| ENST00000636563.1:n.512G>T | ||
| ENST00000636577.1:c.790G>T | ENSP00000490027.1:p.Gly264Ter | |
| ENST00000636691.1:c.655G>T | ENSP00000490725.1:p.Gly219Ter | |
| ENST00000636701.1:c.*501G>T | ENSP00000489800.1:n.*501G>T | |
| ENST00000636815.1:c.767G>T | ||
| ENST00000636920.1:c.*686G>T | ENSP00000490437.1:n.*686G>T | |
| ENST00000636997.1:c.763G>T | ENSP00000490093.1:p.Gly255Ter | |
| ENST00000637013.1:c.*1218G>T | ENSP00000490596.1:n.*1218G>T | |
| ENST00000637014.1:n.1257G>T | ||
| ENST00000637095.1:c.*630G>T | ENSP00000490415.1:n.*630G>T | |
| ENST00000637244.1:c.*1368G>T | ENSP00000490188.1:n.*1368G>T | |
| ENST00000637343.1:n.2287G>T | ||
| ENST00000637429.1:c.*1062G>T | ENSP00000490522.1:n.*1062G>T | |
| ENST00000637484.1:c.*812G>T | ENSP00000490837.1:n.*812G>T | |
| ENST00000637528.1:c.787G>T | ENSP00000490801.1:p.Gly263Ter | |
| ENST00000637609.1:n.3571G>T | ||
| ENST00000637636.1:c.844G>T | ENSP00000490112.1:p.Gly282Ter | |
| ENST00000637790.2:c.850G>T MANE Select | ENSP00000490272.1:p.Gly284Ter | |
| ENST00000637857.1:n.1216G>T | ||
| ENST00000637922.1:c.655G>T | ENSP00000490071.1:p.Gly219Ter | |
| ENST00000637991.1:c.823G>T | ENSP00000489901.1:p.Gly275Ter | |
| ENST00000638028.1:n.1067G>T | ||
| ENST00000638069.1:n.1671G>T | ||
| ENST00000262097.10:c.850G>T | ENSP00000262097.6:p.Gly284Ter | |
| ENST00000314146.10:c.832G>T | ENSP00000326970.10:p.Gly278Ter | |
| ENST00000381733.8:c.898G>T | ENSP00000371152.4:p.Gly300Ter | |
| ENST00000519468.5:n.679G>T | ||
| ENST00000520781.5:c.775G>T | ENSP00000427751.1:p.Gly259Ter | |
| NM_001127505.1:c.832G>T | NP_001120977.1:p.Gly278Ter | |
| NM_001127505.2:c.832G>T | NP_001120977.1:p.Gly278Ter | |
| NM_004315.4:c.898G>T | NP_004306.3:p.Gly300Ter | |
| NM_004315.5:c.898G>T | NP_004306.3:p.Gly300Ter | |
| NM_177924.3:c.850G>T | NP_808592.2:p.Gly284Ter | |
| NM_177924.4:c.850G>T | NP_808592.2:p.Gly284Ter | |
| XM_005273504.2:c.784G>T | XP_005273561.1:p.Gly262Ter | |
| NM_001363743.1:c.655G>T | NP_001350672.1:p.Gly219Ter | |
| XM_005273504.3:c.784G>T | XP_005273561.1:p.Gly262Ter | |
| NM_177924.5:c.850G>T MANE Select | NP_808592.2:p.Gly284Ter | |
| NM_001127505.3:c.832G>T | NP_001120977.1:p.Gly278Ter | |
| NM_001363743.2:c.655G>T | NP_001350672.1:p.Gly219Ter | |
| NM_004315.6:c.898G>T | NP_004306.3:p.Gly300Ter |