Linked Data
ClinVar Variation Id:
468719
ClinVar RCV Id:
RCV000549116
RCV000569322
RCV000678741
RCV003235282
RCV003492094
RCV003237915
RCV003470760
dbSNP Id:
rs1474354667
gnomAD v2:
10-89720687-A-G
gnomAD v4:
10-87960930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960930A>G , CM000672.2:g.87960930A>G | GRCh38 |
| NC_000010.10:g.89720687A>G , CM000672.1:g.89720687A>G | GRCh37 |
| NC_000010.9:g.89710667A>G | NCBI36 |
| NG_007466.2:g.102492A>G , LRG_311:g.102492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.931A>G | ENSP00000514759.2:p.Ile311Val | |
| ENST00000710265.1:c.838A>G | ENSP00000518161.1:p.Ile280Val | |
| ENST00000472832.3:c.838A>G | ENSP00000483066.2:p.Ile280Val | |
| ENST00000688158.2:n.1573A>G | ||
| ENST00000688922.2:c.*668A>G | ENSP00000508742.2:n.*668A>G | |
| ENST00000700021.1:c.793A>G | ENSP00000514757.1:p.Ile265Val | |
| ENST00000700022.1:c.*177A>G | ENSP00000514758.1:n.*177A>G | |
| ENST00000700023.1:n.1996A>G | ||
| ENST00000700024.1:n.2230A>G | ||
| ENST00000700025.1:n.1607A>G | ||
| ENST00000700026.1:n.475A>G | ||
| ENST00000700029.1:c.765A>G | ||
| ENST00000706954.1:c.838A>G | ENSP00000516674.1:p.Ile280Val | |
| ENST00000706955.1:c.*873A>G | ENSP00000516675.1:n.*873A>G | |
| ENST00000686459.1:c.*424A>G | ENSP00000508909.1:n.*424A>G | |
| ENST00000688158.1:c.*949A>G | ENSP00000509254.1:n.*949A>G | |
| ENST00000688308.1:c.838A>G | ENSP00000508752.1:p.Ile280Val | |
| ENST00000688922.1:c.759A>G | ||
| ENST00000693560.1:c.1357A>G | ENSP00000509861.1:p.Ile453Val | |
| ENST00000371953.8:c.838A>G MANE Select | ENSP00000361021.3:p.Ile280Val | |
| ENST00000371953.7:c.838A>G | ENSP00000361021.3:p.Ile280Val | |
| ENST00000472832.2:c.265A>G | ENSP00000483066.1:p.Ile89Val | |
| NM_000314.5:c.838A>G | NP_000305.3:p.Ile280Val | |
| NM_000314.6:c.838A>G | NP_000305.3:p.Ile280Val | |
| NM_001304717.2:c.1357A>G | NP_001291646.2:p.Ile453Val | |
| NM_001304718.1:c.247A>G | NP_001291647.1:p.Ile83Val | |
| XM_006717926.2:c.793A>G | XP_006717989.1:p.Ile265Val | |
| XM_011539981.1:c.838A>G | XP_011538283.1:p.Ile280Val | |
| XM_011539982.1:c.742A>G | XP_011538284.1:p.Ile248Val | |
| XR_945791.1:n.1408A>G | ||
| NM_000314.7:c.838A>G | NP_000305.3:p.Ile280Val | |
| NM_001304717.5:c.1357A>G | NP_001291646.4:p.Ile453Val | |
| NM_001304718.2:c.247A>G | NP_001291647.1:p.Ile83Val | |
| NM_000314.8:c.838A>G MANE Select | NP_000305.3:p.Ile280Val |