Linked Data
ClinVar Variation Id:
1373229
ClinVar RCV Id:
RCV001875084
dbSNP Id:
rs2137708917
gnomAD v4:
12-32796289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796289G>A , CM000674.2:g.32796289G>A | GRCh38 |
| NC_000012.11:g.32949223G>A , CM000674.1:g.32949223G>A | GRCh37 |
| NC_000012.10:g.32840490G>A | NCBI36 |
| NG_009000.1:g.105558C>T , LRG_398:g.105558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.680C>T | ||
| ENST00000700557.2:n.269C>T | ||
| ENST00000700559.2:c.2168-3558C>T | ENSP00000515065.2:n.2168-3558C>T | |
| ENST00000546498.2:n.864C>T | ||
| ENST00000549461.2:n.669C>T | ||
| ENST00000700555.1:c.608C>T | ENSP00000515062.1:p.Thr203Ile | |
| ENST00000700556.1:c.648C>T | ||
| ENST00000700557.1:c.188C>T | ENSP00000515064.1:p.Thr63Ile | |
| ENST00000700558.1:n.391C>T | ||
| ENST00000700559.1:c.1383-3558C>T | ||
| ENST00000700560.1:n.1392C>T | ||
| ENST00000700561.1:n.1518C>T | ||
| ENST00000070846.11:c.2309C>T | ENSP00000070846.6:p.Thr770Ile | |
| ENST00000340811.9:c.2177C>T MANE Select | ENSP00000342800.5:p.Thr726Ile | |
| ENST00000070846.10:c.2309C>T | ENSP00000070846.6:p.Thr770Ile | |
| ENST00000340811.8:c.2177C>T | ENSP00000342800.4:p.Thr726Ile | |
| ENST00000613243.1:c.2309C>T | ENSP00000478295.1:p.Thr770Ile | |
| NM_001005242.2:c.2177C>T | NP_001005242.2:p.Thr726Ile | |
| NM_004572.3:c.2309C>T , LRG_398t1:c.2309C>T | NP_004563.2:p.Thr770Ile | |
| NM_001005242.3:c.2177C>T MANE Select | NP_001005242.2:p.Thr726Ile | |
| NM_004572.4:c.2309C>T | NP_004563.2:p.Thr770Ile |