Linked Data
ClinVar Variation Id:
1168793
ClinVar RCV Id:
RCV001519307
dbSNP Id:
rs149095347
ExAC:
12:6952178 G / A
gnomAD v2:
12-6952178-G-A
gnomAD v3:
12-6843014-G-A
gnomAD v4:
12-6843014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843014G>A , CM000674.2:g.6843014G>A | GRCh38 |
| NC_000012.11:g.6952178G>A , CM000674.1:g.6952178G>A | GRCh37 |
| NC_000012.10:g.6822439G>A | NCBI36 |
| NG_009100.1:g.7804G>A | |
| NG_009100.2:g.7804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.141G>A MANE Select | ENSP00000229264.3:p.Thr47= | |
| ENST00000229264.7:c.141G>A | ENSP00000229264.3:p.Thr47= | |
| ENST00000435982.6:c.141G>A | ENSP00000414734.2:p.Thr47= | |
| ENST00000537035.1:c.141G>A | ENSP00000445967.1:p.Thr47= | |
| ENST00000539127.5:c.*161G>A | ENSP00000444325.1:n.*161G>A | |
| ENST00000540458.5:n.1492G>A | ||
| ENST00000541257.5:c.141G>A | ENSP00000442002.1:p.Thr47= | |
| ENST00000541978.5:c.141G>A | ENSP00000439753.2:p.Thr47= | |
| NM_001297571.1:c.141G>A | NP_001284500.1:p.Thr47= | |
| NM_002075.3:c.141G>A | NP_002066.1:p.Thr47= | |
| XM_011520953.1:c.141G>A | XP_011519255.1:p.Thr47= | |
| XM_011520954.1:c.141G>A | XP_011519256.1:p.Thr47= | |
| XM_011520953.3:c.141G>A | XP_011519255.1:p.Thr47= | |
| NM_001297571.2:c.141G>A | NP_001284500.1:p.Thr47= | |
| NM_002075.4:c.141G>A MANE Select | NP_002066.1:p.Thr47= |