Linked Data
ClinVar Variation Id:
2097051
ClinVar RCV Id:
RCV003006264
gnomAD v4:
8-18061436-T-G
MyVariant Identifiers:
chr8:g.17918945T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061436T>G , CM000670.2:g.18061436T>G | GRCh38 |
| NC_000008.10:g.17918945T>G , CM000670.1:g.17918945T>G | GRCh37 |
| NC_000008.9:g.17963225T>G | NCBI36 |
| NG_008985.1:g.28563A>C | |
| NG_008985.2:g.28563A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.774A>C | ENSP00000371152.4:p.Gly258= | |
| ENST00000517409.2:n.694A>C | ||
| ENST00000518746.2:n.2412A>C | ||
| ENST00000519545.6:n.743A>C | ||
| ENST00000520781.6:c.651A>C | ENSP00000427751.1:p.Gly217= | |
| ENST00000521542.2:n.34A>C | ||
| ENST00000635756.1:c.139A>C | ||
| ENST00000635944.1:c.*562A>C | ENSP00000490195.1:n.*562A>C | |
| ENST00000635998.1:c.726A>C | ENSP00000490506.1:p.Gly242= | |
| ENST00000636009.1:c.583A>C | ENSP00000489988.1:n.583A>C | |
| ENST00000636033.1:c.*562A>C | ENSP00000489617.1:n.*562A>C | |
| ENST00000636050.1:c.*569A>C | ENSP00000490562.1:n.*569A>C | |
| ENST00000636128.1:c.405A>C | ENSP00000489789.1:p.Gly135= | |
| ENST00000636160.1:c.*618A>C | ENSP00000489651.1:n.*618A>C | |
| ENST00000636171.1:c.669A>C | ENSP00000489761.1:p.Gly223= | |
| ENST00000636455.1:c.774A>C | ENSP00000490502.1:p.Gly258= | |
| ENST00000636494.1:c.*506A>C | ENSP00000490388.1:n.*506A>C | |
| ENST00000636563.1:n.388A>C | ||
| ENST00000636577.1:c.666A>C | ENSP00000490027.1:p.Gly222= | |
| ENST00000636691.1:c.531A>C | ENSP00000490725.1:p.Gly177= | |
| ENST00000636701.1:c.*377A>C | ENSP00000489800.1:n.*377A>C | |
| ENST00000636815.1:c.643A>C | ||
| ENST00000636920.1:c.*562A>C | ENSP00000490437.1:n.*562A>C | |
| ENST00000636997.1:c.639A>C | ENSP00000490093.1:p.Gly213= | |
| ENST00000637013.1:c.*1094A>C | ENSP00000490596.1:n.*1094A>C | |
| ENST00000637014.1:n.1133A>C | ||
| ENST00000637095.1:c.*506A>C | ENSP00000490415.1:n.*506A>C | |
| ENST00000637244.1:c.*1244A>C | ENSP00000490188.1:n.*1244A>C | |
| ENST00000637343.1:n.2163A>C | ||
| ENST00000637429.1:c.*938A>C | ENSP00000490522.1:n.*938A>C | |
| ENST00000637484.1:c.*688A>C | ENSP00000490837.1:n.*688A>C | |
| ENST00000637528.1:c.663A>C | ENSP00000490801.1:p.Gly221= | |
| ENST00000637609.1:n.3447A>C | ||
| ENST00000637636.1:c.720A>C | ENSP00000490112.1:p.Gly240= | |
| ENST00000637790.2:c.726A>C MANE Select | ENSP00000490272.1:p.Gly242= | |
| ENST00000637857.1:n.1092A>C | ||
| ENST00000637922.1:c.531A>C | ENSP00000490071.1:p.Gly177= | |
| ENST00000637991.1:c.699A>C | ENSP00000489901.1:p.Gly233= | |
| ENST00000638028.1:n.943A>C | ||
| ENST00000638069.1:n.1547A>C | ||
| ENST00000262097.10:c.726A>C | ENSP00000262097.6:p.Gly242= | |
| ENST00000314146.10:c.708A>C | ENSP00000326970.10:p.Gly236= | |
| ENST00000381733.8:c.774A>C | ENSP00000371152.4:p.Gly258= | |
| ENST00000518746.1:n.543A>C | ||
| ENST00000519468.5:n.555A>C | ||
| ENST00000520781.5:c.651A>C | ENSP00000427751.1:p.Gly217= | |
| ENST00000521542.1:n.439A>C | ||
| NM_001127505.1:c.708A>C | NP_001120977.1:p.Gly236= | |
| NM_001127505.2:c.708A>C | NP_001120977.1:p.Gly236= | |
| NM_004315.4:c.774A>C | NP_004306.3:p.Gly258= | |
| NM_004315.5:c.774A>C | NP_004306.3:p.Gly258= | |
| NM_177924.3:c.726A>C | NP_808592.2:p.Gly242= | |
| NM_177924.4:c.726A>C | NP_808592.2:p.Gly242= | |
| XM_005273504.2:c.660A>C | XP_005273561.1:p.Gly220= | |
| NM_001363743.1:c.531A>C | NP_001350672.1:p.Gly177= | |
| XM_005273504.3:c.660A>C | XP_005273561.1:p.Gly220= | |
| NM_177924.5:c.726A>C MANE Select | NP_808592.2:p.Gly242= | |
| NM_001127505.3:c.708A>C | NP_001120977.1:p.Gly236= | |
| NM_001363743.2:c.531A>C | NP_001350672.1:p.Gly177= | |
| NM_004315.6:c.774A>C | NP_004306.3:p.Gly258= |