Linked Data
ClinVar Variation Id:
412807
dbSNP Id:
rs752250585
ExAC:
10:89717734 C / T
gnomAD v2:
10-89717734-C-T
gnomAD v4:
10-87957977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957977C>T , CM000672.2:g.87957977C>T | GRCh38 |
| NC_000010.10:g.89717734C>T , CM000672.1:g.89717734C>T | GRCh37 |
| NC_000010.9:g.89707714C>T | NCBI36 |
| NG_007466.2:g.99539C>T , LRG_311:g.99539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.759C>T | ENSP00000514759.2:p.Ile253= | |
| ENST00000710265.1:c.759C>T | ENSP00000518161.1:p.Ile253= | |
| ENST00000472832.3:c.759C>T | ENSP00000483066.2:p.Ile253= | |
| ENST00000688158.2:n.1494C>T | ||
| ENST00000688922.2:c.*589C>T | ENSP00000508742.2:n.*589C>T | |
| ENST00000700021.1:c.714C>T | ENSP00000514757.1:p.Ile238= | |
| ENST00000700022.1:c.*98C>T | ENSP00000514758.1:n.*98C>T | |
| ENST00000700023.1:n.1917C>T | ||
| ENST00000700024.1:n.2151C>T | ||
| ENST00000700025.1:n.1528C>T | ||
| ENST00000700026.1:n.396C>T | ||
| ENST00000700029.1:c.593C>T | ||
| ENST00000706954.1:c.759C>T | ENSP00000516674.1:p.Ile253= | |
| ENST00000706955.1:c.*794C>T | ENSP00000516675.1:n.*794C>T | |
| ENST00000686459.1:c.*345C>T | ENSP00000508909.1:n.*345C>T | |
| ENST00000688158.1:c.*870C>T | ENSP00000509254.1:n.*870C>T | |
| ENST00000688308.1:c.759C>T | ENSP00000508752.1:p.Ile253= | |
| ENST00000688922.1:c.680C>T | ||
| ENST00000693560.1:c.1278C>T | ENSP00000509861.1:p.Ile426= | |
| ENST00000371953.8:c.759C>T MANE Select | ENSP00000361021.3:p.Ile253= | |
| ENST00000371953.7:c.759C>T | ENSP00000361021.3:p.Ile253= | |
| ENST00000472832.2:c.186C>T | ENSP00000483066.1:p.Ile62= | |
| NM_000314.5:c.759C>T | NP_000305.3:p.Ile253= | |
| NM_000314.6:c.759C>T | NP_000305.3:p.Ile253= | |
| NM_001304717.2:c.1278C>T | NP_001291646.2:p.Ile426= | |
| NM_001304718.1:c.168C>T | NP_001291647.1:p.Ile56= | |
| XM_006717926.2:c.714C>T | XP_006717989.1:p.Ile238= | |
| XM_011539981.1:c.759C>T | XP_011538283.1:p.Ile253= | |
| XM_011539982.1:c.663C>T | XP_011538284.1:p.Ile221= | |
| XR_945791.1:n.1329C>T | ||
| NM_000314.7:c.759C>T | NP_000305.3:p.Ile253= | |
| NM_001304717.5:c.1278C>T | NP_001291646.4:p.Ile426= | |
| NM_001304718.2:c.168C>T | NP_001291647.1:p.Ile56= | |
| NM_000314.8:c.759C>T MANE Select | NP_000305.3:p.Ile253= |