Linked Data
ClinVar Variation Id:
879664
ClinVar RCV Id:
RCV001107357
dbSNP Id:
rs1350355238
gnomAD v2:
11-118963116-G-A
gnomAD v4:
11-119092406-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092406G>A , CM000673.2:g.119092406G>A | GRCh38 |
| NC_000011.9:g.118963116G>A , CM000673.1:g.118963116G>A | GRCh37 |
| NC_000011.8:g.118468326G>A | NCBI36 |
| NG_008093.1:g.12530G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.489G>A | ENSP00000509288.1:p.Gly163= | |
| ENST00000691144.1:n.2635G>A | ||
| ENST00000691249.1:n.1478G>A | ||
| ENST00000442944.7:c.636G>A | ENSP00000392041.3:p.Gly212= | |
| ENST00000536813.6:c.603G>A | ENSP00000438726.2:p.Gly201= | |
| ENST00000640813.1:c.464G>A | ENSP00000491061.1:p.Gly155Glu | |
| ENST00000648026.1:c.548G>A | ENSP00000498044.1:p.Gly183Glu | |
| ENST00000648374.1:c.603G>A | ENSP00000497255.1:p.Gly201= | |
| ENST00000649823.1:n.1111G>A | ||
| ENST00000650101.1:c.585G>A | ENSP00000496970.1:p.Gly195= | |
| ENST00000650307.1:n.1480G>A | ||
| ENST00000652429.1:c.654G>A MANE Select | ENSP00000498786.1:p.Gly218= | |
| ENST00000278715.7:c.654G>A | ENSP00000278715.3:p.Gly218= | |
| ENST00000392841.1:c.603G>A | ENSP00000376584.1:p.Gly201= | |
| ENST00000442944.6:c.603G>A | ENSP00000392041.2:p.Gly201= | |
| ENST00000537841.5:c.603G>A | ENSP00000444730.1:p.Gly201= | |
| ENST00000542044.5:n.1099G>A | ||
| ENST00000542729.5:c.600+243G>A | ENSP00000443058.1:n.600+243G>A | |
| ENST00000543090.5:c.561G>A | ENSP00000445429.1:p.Gly187= | |
| ENST00000543543.5:n.1129G>A | ||
| ENST00000544182.1:n.869G>A | ||
| ENST00000544387.5:c.651+243G>A | ENSP00000438424.1:n.651+243G>A | |
| ENST00000545621.5:c.*789G>A | ENSP00000444849.1:n.*789G>A | |
| ENST00000546226.5:n.1182G>A | ||
| NM_000190.3:c.654G>A | NP_000181.2:p.Gly218= | |
| NM_001024382.1:c.603G>A | NP_001019553.1:p.Gly201= | |
| NM_001258208.1:c.651+243G>A | NP_001245137.1:n.651+243G>A | |
| NM_001258209.1:c.600+243G>A | NP_001245138.1:n.600+243G>A | |
| XM_005271531.1:c.603G>A | XP_005271588.1:p.Gly201= | |
| XM_005271532.1:c.603G>A | XP_005271589.1:p.Gly201= | |
| XM_005271533.2:c.600G>A | XP_005271590.1:p.Gly200= | |
| XM_011542796.1:c.489G>A | XP_011541098.1:p.Gly163= | |
| NM_000190.4:c.654G>A MANE Select | NP_000181.2:p.Gly218= | |
| NM_001024382.2:c.603G>A | NP_001019553.1:p.Gly201= | |
| XM_005271533.3:c.600G>A | XP_005271590.1:p.Gly200= | |
| XM_017017629.1:c.603G>A | XP_016873118.1:p.Gly201= | |
| XM_024448460.1:c.597+243G>A | XP_024304228.1:n.597+243G>A | |
| NM_001258208.2:c.651+243G>A | NP_001245137.1:n.651+243G>A | |
| NM_001258209.2:c.600+243G>A | NP_001245138.1:n.600+243G>A |