Linked Data
dbSNP Id:
rs2134879149
gnomAD v4:
11-119092424-G-C
MyVariant Identifiers:
chr11:g.118963134G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092424G>C , CM000673.2:g.119092424G>C | GRCh38 |
| NC_000011.9:g.118963134G>C , CM000673.1:g.118963134G>C | GRCh37 |
| NC_000011.8:g.118468344G>C | NCBI36 |
| NG_008093.1:g.12548G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.507G>C | ENSP00000509288.1:p.Val169= | |
| ENST00000691144.1:n.2653G>C | ||
| ENST00000691249.1:n.1496G>C | ||
| ENST00000442944.7:c.654G>C | ENSP00000392041.3:p.Val218= | |
| ENST00000536813.6:c.621G>C | ENSP00000438726.2:p.Val207= | |
| ENST00000640813.1:c.482G>C | ENSP00000491061.1:p.Cys161Ser | |
| ENST00000648026.1:c.566G>C | ENSP00000498044.1:p.Cys189Ser | |
| ENST00000648374.1:c.621G>C | ENSP00000497255.1:p.Val207= | |
| ENST00000649823.1:n.1129G>C | ||
| ENST00000650101.1:c.603G>C | ENSP00000496970.1:p.Val201= | |
| ENST00000650307.1:n.1498G>C | ||
| ENST00000652429.1:c.672G>C MANE Select | ENSP00000498786.1:p.Val224= | |
| ENST00000278715.7:c.672G>C | ENSP00000278715.3:p.Val224= | |
| ENST00000392841.1:c.621G>C | ENSP00000376584.1:p.Val207= | |
| ENST00000442944.6:c.621G>C | ENSP00000392041.2:p.Val207= | |
| ENST00000537841.5:c.621G>C | ENSP00000444730.1:p.Val207= | |
| ENST00000542044.5:n.1117G>C | ||
| ENST00000542729.5:c.600+261G>C | ENSP00000443058.1:n.600+261G>C | |
| ENST00000543090.5:c.579G>C | ENSP00000445429.1:p.Val193= | |
| ENST00000543543.5:n.1147G>C | ||
| ENST00000544182.1:n.887G>C | ||
| ENST00000544387.5:c.651+261G>C | ENSP00000438424.1:n.651+261G>C | |
| ENST00000545621.5:c.*807G>C | ENSP00000444849.1:n.*807G>C | |
| ENST00000546226.5:n.1200G>C | ||
| NM_000190.3:c.672G>C | NP_000181.2:p.Val224= | |
| NM_001024382.1:c.621G>C | NP_001019553.1:p.Val207= | |
| NM_001258208.1:c.651+261G>C | NP_001245137.1:n.651+261G>C | |
| NM_001258209.1:c.600+261G>C | NP_001245138.1:n.600+261G>C | |
| XM_005271531.1:c.621G>C | XP_005271588.1:p.Val207= | |
| XM_005271532.1:c.621G>C | XP_005271589.1:p.Val207= | |
| XM_005271533.2:c.618G>C | XP_005271590.1:p.Val206= | |
| XM_011542796.1:c.507G>C | XP_011541098.1:p.Val169= | |
| NM_000190.4:c.672G>C MANE Select | NP_000181.2:p.Val224= | |
| NM_001024382.2:c.621G>C | NP_001019553.1:p.Val207= | |
| XM_005271533.3:c.618G>C | XP_005271590.1:p.Val206= | |
| XM_017017629.1:c.621G>C | XP_016873118.1:p.Val207= | |
| XM_024448460.1:c.597+261G>C | XP_024304228.1:n.597+261G>C | |
| NM_001258208.2:c.651+261G>C | NP_001245137.1:n.651+261G>C | |
| NM_001258209.2:c.600+261G>C | NP_001245138.1:n.600+261G>C |