Linked Data
ClinVar Variation Id:
36345
ClinVar RCV Id:
RCV000030015
RCV000725499
RCV000764241
RCV001142000
RCV001358754
RCV001844803
RCV003234540
dbSNP Id:
rs147638455
ExAC:
20:43058267 A / G
gnomAD v2:
20-43058267-A-G
gnomAD v3:
20-44429627-A-G
gnomAD v4:
20-44429627-A-G
ERepo:
CA213913/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44429627A>G , CM000682.2:g.44429627A>G | GRCh38 |
| NC_000020.10:g.43058267A>G , CM000682.1:g.43058267A>G | GRCh37 |
| NC_000020.9:g.42491681A>G | NCBI36 |
| NG_009818.1:g.78827A>G , LRG_483:g.78827A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.1321A>G MANE Select | ENSP00000315180.4:p.Ile441Val | |
| ENST00000316099.10:c.1387A>G | ENSP00000312987.3:p.Ile463Val | |
| ENST00000316099.9:c.1387A>G | ENSP00000312987.3:p.Ile463Val | |
| ENST00000316099.8:c.1387A>G | ENSP00000312987.3:p.Ile463Val | |
| ENST00000316673.8:c.1321A>G | ENSP00000315180.4:p.Ile441Val | |
| ENST00000372920.1:c.*1154A>G | ENSP00000362011.1:n.*1154A>G | |
| ENST00000415691.2:c.1357A>G | ENSP00000412111.1:p.Ile453Val | |
| ENST00000457232.5:c.1291A>G | ENSP00000396216.1:p.Ile431Val | |
| ENST00000619550.4:c.1312A>G | ENSP00000481331.1:p.Ile438Val | |
| NM_000457.4:c.1387A>G , LRG_483t2:c.1387A>G | NP_000448.3:p.Ile463Val | |
| NM_001030003.2:c.1291A>G | NP_001025174.1:p.Ile431Val | |
| NM_001258355.1:c.1366A>G | NP_001245284.1:p.Ile456Val | |
| NM_001287182.1:c.1282A>G | NP_001274111.1:p.Ile428Val | |
| NM_001287183.1:c.1312A>G , LRG_483t3:c.1312A>G | NP_001274112.1:p.Ile438Val | |
| NM_175914.4:c.1321A>G , LRG_483t1:c.1321A>G | NP_787110.2:p.Ile441Val | |
| NM_178849.2:c.1357A>G | NP_849180.1:p.Ile453Val | |
| XM_005260407.2:c.1504A>G | XP_005260464.1:p.Ile502Val | |
| XM_011528797.1:c.1405A>G | XP_011527099.1:p.Ile469Val | |
| XM_011528798.1:c.1435A>G | XP_011527100.1:p.Ile479Val | |
| XM_005260407.4:c.1504A>G | XP_005260464.1:p.Ile502Val | |
| NM_001030003.3:c.1291A>G | NP_001025174.1:p.Ile431Val | |
| NM_001258355.2:c.1366A>G | NP_001245284.1:p.Ile456Val | |
| NM_001287182.2:c.1282A>G | NP_001274111.1:p.Ile428Val | |
| NM_178849.3:c.1357A>G | NP_849180.1:p.Ile453Val | |
| NM_000457.5:c.1387A>G | NP_000448.3:p.Ile463Val | |
| NM_000457.6:c.1387A>G | NP_000448.3:p.Ile463Val | |
| NM_001287183.2:c.1312A>G | NP_001274112.1:p.Ile438Val | |
| NM_175914.5:c.1321A>G MANE Select | NP_787110.2:p.Ile441Val |