Linked Data
ClinVar Variation Id:
16194
ClinVar RCV Id:
RCV000017578
dbSNP Id:
rs121909675
gnomAD v2:
2-85780168-A-C
gnomAD v3:
2-85553045-A-C
gnomAD v4:
2-85553045-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553045A>C , CM000664.2:g.85553045A>C | GRCh38 |
| NC_000002.11:g.85780168A>C , CM000664.1:g.85780168A>C | GRCh37 |
| NC_000002.10:g.85633679A>C | NCBI36 |
| NG_011811.2:g.13490T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.5225T>G | ||
| ENST00000482662.2:n.3632T>G | ||
| ENST00000685865.1:n.1584T>G | ||
| ENST00000687250.1:n.1284T>G | ||
| ENST00000687995.1:n.1533T>G | ||
| ENST00000688205.1:c.*774T>G | ENSP00000509673.1:n.*774T>G | |
| ENST00000688788.1:n.1420T>G | ||
| ENST00000689276.1:c.1112T>G | ENSP00000510012.1:p.Leu371Arg | |
| ENST00000689576.1:c.1181T>G | ENSP00000508712.1:p.Leu394Arg | |
| ENST00000690108.1:c.*837T>G | ENSP00000510617.1:n.*837T>G | |
| ENST00000690468.1:c.902T>G | ENSP00000509078.1:p.Leu301Arg | |
| ENST00000690595.1:c.506T>G | ENSP00000508979.1:p.Leu169Arg | |
| ENST00000691348.1:c.1010T>G | ENSP00000509369.1:p.Leu337Arg | |
| ENST00000691410.1:c.*758T>G | ENSP00000508479.1:n.*758T>G | |
| ENST00000693287.1:c.497T>G | ENSP00000510264.1:p.Leu166Arg | |
| ENST00000693681.1:c.494T>G | ENSP00000510789.1:p.Leu165Arg | |
| ENST00000233838.9:c.1181T>G MANE Select | ENSP00000233838.3:p.Leu394Arg | |
| ENST00000233838.8:c.1181T>G | ENSP00000233838.3:p.Leu394Arg | |
| ENST00000430215.7:c.1010T>G | ENSP00000408045.3:p.Leu337Arg | |
| ENST00000465637.5:n.179-5041T>G | ||
| ENST00000473665.1:n.674T>G | ||
| ENST00000482662.1:n.598T>G | ||
| NM_000821.5:c.1181T>G | NP_000812.2:p.Leu394Arg | |
| NM_000821.6:c.1181T>G | NP_000812.2:p.Leu394Arg | |
| NM_001142269.2:c.1010T>G | NP_001135741.1:p.Leu337Arg | |
| NM_001142269.3:c.1010T>G | NP_001135741.1:p.Leu337Arg | |
| XM_005264259.3:c.1181T>G | XP_005264316.1:p.Leu394Arg | |
| XM_011532764.1:c.359T>G | XP_011531066.1:p.Leu120Arg | |
| XM_011532765.1:c.359T>G | XP_011531067.1:p.Leu120Arg | |
| XR_939677.1:n.1246T>G | ||
| XM_005264259.5:c.1181T>G | XP_005264316.1:p.Leu394Arg | |
| XM_011532764.3:c.359T>G | XP_011531066.1:p.Leu120Arg | |
| XM_011532765.3:c.359T>G | XP_011531067.1:p.Leu120Arg | |
| XM_017003803.2:c.1010T>G | XP_016859292.1:p.Leu337Arg | |
| XR_001738703.2:n.1246T>G | ||
| NM_000821.7:c.1181T>G MANE Select | NP_000812.2:p.Leu394Arg | |
| NM_001142269.4:c.1010T>G | NP_001135741.1:p.Leu337Arg |