Linked Data
ClinVar Variation Id:
2912092
ClinVar RCV Id:
RCV003620370
dbSNP Id:
rs1860626113
gnomAD v3:
10-87961010-A-G
gnomAD v4:
10-87961010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961010A>G , CM000672.2:g.87961010A>G | GRCh38 |
| NC_000010.10:g.89720767A>G , CM000672.1:g.89720767A>G | GRCh37 |
| NC_000010.9:g.89710747A>G | NCBI36 |
| NG_007466.2:g.102572A>G , LRG_311:g.102572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1011A>G | ENSP00000514759.2:p.Ile337Met | |
| ENST00000710265.1:c.918A>G | ENSP00000518161.1:p.Ile306Met | |
| ENST00000472832.3:c.918A>G | ENSP00000483066.2:p.Ile306Met | |
| ENST00000688158.2:n.1653A>G | ||
| ENST00000688922.2:c.*748A>G | ENSP00000508742.2:n.*748A>G | |
| ENST00000700021.1:c.873A>G | ENSP00000514757.1:p.Ile291Met | |
| ENST00000700022.1:c.*257A>G | ENSP00000514758.1:n.*257A>G | |
| ENST00000700023.1:n.2076A>G | ||
| ENST00000700024.1:n.2310A>G | ||
| ENST00000700025.1:n.1687A>G | ||
| ENST00000700026.1:n.555A>G | ||
| ENST00000706954.1:c.918A>G | ENSP00000516674.1:p.Ile306Met | |
| ENST00000706955.1:c.*953A>G | ENSP00000516675.1:n.*953A>G | |
| ENST00000686459.1:c.*504A>G | ENSP00000508909.1:n.*504A>G | |
| ENST00000688158.1:c.*1029A>G | ENSP00000509254.1:n.*1029A>G | |
| ENST00000688308.1:c.918A>G | ENSP00000508752.1:p.Ile306Met | |
| ENST00000688922.1:c.839A>G | ||
| ENST00000693560.1:c.1437A>G | ENSP00000509861.1:p.Ile479Met | |
| ENST00000371953.8:c.918A>G MANE Select | ENSP00000361021.3:p.Ile306Met | |
| ENST00000371953.7:c.918A>G | ENSP00000361021.3:p.Ile306Met | |
| ENST00000472832.2:c.345A>G | ENSP00000483066.1:p.Ile115Met | |
| NM_000314.5:c.918A>G | NP_000305.3:p.Ile306Met | |
| NM_000314.6:c.918A>G | NP_000305.3:p.Ile306Met | |
| NM_001304717.2:c.1437A>G | NP_001291646.2:p.Ile479Met | |
| NM_001304718.1:c.327A>G | NP_001291647.1:p.Ile109Met | |
| XM_006717926.2:c.873A>G | XP_006717989.1:p.Ile291Met | |
| XM_011539981.1:c.918A>G | XP_011538283.1:p.Ile306Met | |
| XM_011539982.1:c.822A>G | XP_011538284.1:p.Ile274Met | |
| XR_945791.1:n.1488A>G | ||
| NM_000314.7:c.918A>G | NP_000305.3:p.Ile306Met | |
| NM_001304717.5:c.1437A>G | NP_001291646.4:p.Ile479Met | |
| NM_001304718.2:c.327A>G | NP_001291647.1:p.Ile109Met | |
| NM_000314.8:c.918A>G MANE Select | NP_000305.3:p.Ile306Met |