Linked Data
dbSNP Id:
rs139408369
ExAC:
11:118963672 C / A
gnomAD v2:
11-118963672-C-A
gnomAD v3:
11-119092962-C-A
gnomAD v4:
11-119092962-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092962C>A , CM000673.2:g.119092962C>A | GRCh38 |
| NC_000011.9:g.118963672C>A , CM000673.1:g.118963672C>A | GRCh37 |
| NC_000011.8:g.118468882C>A | NCBI36 |
| NG_008093.1:g.13086C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.688C>A | ENSP00000509288.1:p.Leu230Ile | |
| ENST00000691144.1:n.3068C>A | ||
| ENST00000691249.1:n.1677C>A | ||
| ENST00000442944.7:c.835C>A | ENSP00000392041.3:p.Leu279Ile | |
| ENST00000640813.1:c.*90C>A | ENSP00000491061.1:n.*90C>A | |
| ENST00000648026.1:c.747C>A | ENSP00000498044.1:n.747C>A | |
| ENST00000648374.1:c.802C>A | ENSP00000497255.1:p.Leu268Ile | |
| ENST00000650101.1:c.784C>A | ENSP00000496970.1:p.Leu262Ile | |
| ENST00000650307.1:n.1679C>A | ||
| ENST00000652429.1:c.853C>A MANE Select | ENSP00000498786.1:p.Leu285Ile | |
| ENST00000278715.7:c.853C>A | ENSP00000278715.3:p.Leu285Ile | |
| ENST00000392841.1:c.802C>A | ENSP00000376584.1:p.Leu268Ile | |
| ENST00000442944.6:c.802C>A | ENSP00000392041.2:p.Leu268Ile | |
| ENST00000537841.5:c.802C>A | ENSP00000444730.1:p.Leu268Ile | |
| ENST00000539045.1:n.352C>A | ||
| ENST00000542044.5:n.1298C>A | ||
| ENST00000542729.5:c.682C>A | ENSP00000443058.1:p.Leu228Ile | |
| ENST00000543090.5:c.760C>A | ENSP00000445429.1:p.Leu254Ile | |
| ENST00000543543.5:n.1328C>A | ||
| ENST00000544182.1:n.1302C>A | ||
| ENST00000544387.5:c.733C>A | ENSP00000438424.1:p.Leu245Ile | |
| ENST00000546226.5:n.1615C>A | ||
| NM_000190.3:c.853C>A | NP_000181.2:p.Leu285Ile | |
| NM_001024382.1:c.802C>A | NP_001019553.1:p.Leu268Ile | |
| NM_001258208.1:c.733C>A | NP_001245137.1:p.Leu245Ile | |
| NM_001258209.1:c.682C>A | NP_001245138.1:p.Leu228Ile | |
| XM_005271531.1:c.802C>A | XP_005271588.1:p.Leu268Ile | |
| XM_005271532.1:c.802C>A | XP_005271589.1:p.Leu268Ile | |
| XM_005271533.2:c.799C>A | XP_005271590.1:p.Leu267Ile | |
| XM_011542796.1:c.688C>A | XP_011541098.1:p.Leu230Ile | |
| NM_000190.4:c.853C>A MANE Select | NP_000181.2:p.Leu285Ile | |
| NM_001024382.2:c.802C>A | NP_001019553.1:p.Leu268Ile | |
| XM_005271533.3:c.799C>A | XP_005271590.1:p.Leu267Ile | |
| XM_017017629.1:c.802C>A | XP_016873118.1:p.Leu268Ile | |
| XM_024448460.1:c.679C>A | XP_024304228.1:p.Leu227Ile | |
| NM_001258208.2:c.733C>A | NP_001245137.1:p.Leu245Ile | |
| NM_001258209.2:c.682C>A | NP_001245138.1:p.Leu228Ile |