Linked Data
ClinVar Variation Id:
133802
dbSNP Id:
rs146334064
ExAC:
7:2951811 C / T
gnomAD v2:
7-2951811-C-T
gnomAD v3:
7-2912177-C-T
gnomAD v4:
7-2912177-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2912177C>T , CM000669.2:g.2912177C>T | GRCh38 |
| NC_000007.13:g.2951811C>T , CM000669.1:g.2951811C>T | GRCh37 |
| NC_000007.12:g.2918337C>T | NCBI36 |
| NG_027759.1:g.136699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.4249G>A | ||
| ENST00000698652.1:n.2095G>A | ||
| ENST00000396946.9:c.3139G>A MANE Select | ENSP00000380150.4:p.Ala1047Thr | |
| ENST00000396946.8:c.3139G>A | ENSP00000380150.4:p.Ala1047Thr | |
| NM_032415.5:c.3139G>A | NP_115791.3:p.Ala1047Thr | |
| XM_011515585.1:c.3139G>A | XP_011513887.1:p.Ala1047Thr | |
| XM_011515586.1:c.3139G>A | XP_011513888.1:p.Ala1047Thr | |
| XM_011515587.1:c.3136G>A | XP_011513889.1:p.Ala1046Thr | |
| NM_001324281.1:c.3139G>A | NP_001311210.1:p.Ala1047Thr | |
| XM_011515586.2:c.3139G>A | XP_011513888.1:p.Ala1047Thr | |
| XM_011515587.2:c.3136G>A | XP_011513889.1:p.Ala1046Thr | |
| NM_001324281.2:c.3139G>A | NP_001311210.1:p.Ala1047Thr | |
| NM_032415.6:c.3139G>A | NP_115791.3:p.Ala1047Thr | |
| NM_001324281.3:c.3139G>A | NP_001311210.1:p.Ala1047Thr | |
| NM_032415.7:c.3139G>A MANE Select | NP_115791.3:p.Ala1047Thr |