Linked Data
ClinVar Variation Id:
1424538
dbSNP Id:
rs1249551566
gnomAD v3:
12-32796290-T-A
gnomAD v4:
12-32796290-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796290T>A , CM000674.2:g.32796290T>A | GRCh38 |
| NC_000012.11:g.32949224T>A , CM000674.1:g.32949224T>A | GRCh37 |
| NC_000012.10:g.32840491T>A | NCBI36 |
| NG_009000.1:g.105557A>T , LRG_398:g.105557A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.679A>T | ||
| ENST00000700557.2:n.268A>T | ||
| ENST00000700559.2:c.2168-3559A>T | ENSP00000515065.2:n.2168-3559A>T | |
| ENST00000546498.2:n.863A>T | ||
| ENST00000549461.2:n.668A>T | ||
| ENST00000700555.1:c.607A>T | ENSP00000515062.1:p.Thr203Ser | |
| ENST00000700556.1:c.647A>T | ||
| ENST00000700557.1:c.187A>T | ENSP00000515064.1:p.Thr63Ser | |
| ENST00000700558.1:n.390A>T | ||
| ENST00000700559.1:c.1383-3559A>T | ||
| ENST00000700560.1:n.1391A>T | ||
| ENST00000700561.1:n.1517A>T | ||
| ENST00000070846.11:c.2308A>T | ENSP00000070846.6:p.Thr770Ser | |
| ENST00000340811.9:c.2176A>T MANE Select | ENSP00000342800.5:p.Thr726Ser | |
| ENST00000070846.10:c.2308A>T | ENSP00000070846.6:p.Thr770Ser | |
| ENST00000340811.8:c.2176A>T | ENSP00000342800.4:p.Thr726Ser | |
| ENST00000613243.1:c.2308A>T | ENSP00000478295.1:p.Thr770Ser | |
| NM_001005242.2:c.2176A>T | NP_001005242.2:p.Thr726Ser | |
| NM_004572.3:c.2308A>T , LRG_398t1:c.2308A>T | NP_004563.2:p.Thr770Ser | |
| NM_001005242.3:c.2176A>T MANE Select | NP_001005242.2:p.Thr726Ser | |
| NM_004572.4:c.2308A>T | NP_004563.2:p.Thr770Ser |