Linked Data
ClinVar Variation Id:
198153
ClinVar RCV Id:
RCV000179414
RCV000192901
RCV000515449
RCV000540917
RCV001133337
RCV001133338
RCV001133339
RCV001195747
RCV002362922
dbSNP Id:
rs71428908
ExAC:
2:167160752 G / C
gnomAD v2:
2-167160752-G-C
gnomAD v3:
2-166304242-G-C
gnomAD v4:
2-166304242-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166304242G>C , CM000664.2:g.166304242G>C | GRCh38 |
| NC_000002.11:g.167160752G>C , CM000664.1:g.167160752G>C | GRCh37 |
| NC_000002.10:g.166868998G>C | NCBI36 |
| NG_012798.1:g.76746C>G , LRG_369:g.76746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.684C>G | ENSP00000304748.7:p.Ile228Met | |
| ENST00000409435.6:c.597-120C>G | ENSP00000386330.2:n.597-120C>G | |
| ENST00000452182.2:c.684C>G | ENSP00000393141.2:p.Ile228Met | |
| ENST00000454569.6:c.684C>G | ENSP00000413212.2:p.Ile228Met | |
| ENST00000472119.2:n.1039C>G | ||
| ENST00000642356.2:c.684C>G MANE Select | ENSP00000495601.1:p.Ile228Met | |
| ENST00000644316.1:c.597-120C>G | ENSP00000493939.1:n.597-120C>G | |
| ENST00000645907.1:c.597-120C>G | ENSP00000495983.1:n.597-120C>G | |
| ENST00000303354.10:c.684C>G | ENSP00000304748.7:p.Ile228Met | |
| ENST00000409435.5:c.684C>G | ENSP00000386330.1:p.Ile228Met | |
| ENST00000409672.5:c.684C>G | ENSP00000386306.1:p.Ile228Met | |
| ENST00000452182.1:c.192-120C>G | ENSP00000393141.1:n.192-120C>G | |
| ENST00000454569.5:c.192-120C>G | ENSP00000413212.1:n.192-120C>G | |
| ENST00000472119.1:n.217C>G | ||
| NM_002977.3:c.684C>G , LRG_369t1:c.684C>G | NP_002968.1:p.Ile228Met | |
| XM_005246757.1:c.684C>G | XP_005246814.1:p.Ile228Met | |
| XM_011511616.1:c.684C>G | XP_011509918.1:p.Ile228Met | |
| XM_011511617.1:c.597-120C>G | XP_011509919.1:n.597-120C>G | |
| XM_011511618.1:c.597-120C>G | XP_011509920.1:n.597-120C>G | |
| XM_011511619.1:c.684C>G | XP_011509921.1:p.Ile228Met | |
| NM_001365536.1:c.684C>G MANE Select | NP_001352465.1:p.Ile228Met | |
| XM_011511616.3:c.684C>G | XP_011509918.1:p.Ile228Met | |
| XM_011511617.2:c.597-120C>G | XP_011509919.1:n.597-120C>G | |
| XM_011511618.2:c.597-120C>G | XP_011509920.1:n.597-120C>G | |
| XM_011511619.2:c.684C>G | XP_011509921.1:p.Ile228Met | |
| XM_017004668.1:c.297C>G | XP_016860157.1:p.Ile99Met | |
| XM_017004669.1:c.-56-940C>G | XP_016860158.1:n.-56-940C>G | |
| XR_001738886.1:n.998C>G |