Linked Data
ClinVar Variation Id:
46057
dbSNP Id:
rs11000008
ExAC:
10:73569713 C / T
gnomAD v2:
10-73569713-C-T
gnomAD v3:
10-71809956-C-T
gnomAD v4:
10-71809956-C-T
COSMIC:
COSM1348928
PubMed:
PMID:17850630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809956C>T , CM000672.2:g.71809956C>T | GRCh38 |
| NC_000010.10:g.73569713C>T , CM000672.1:g.73569713C>T | GRCh37 |
| NC_000010.9:g.73239719C>T | NCBI36 |
| NG_008835.1:g.418010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8859C>T MANE Select | ENSP00000224721.9:p.Asp2953= | |
| ENST00000642965.1:c.2792C>T | ENSP00000495222.1:n.2792C>T | |
| ENST00000647092.1:c.2456C>T | ENSP00000495176.1:n.2456C>T | |
| ENST00000224721.10:c.8874C>T | ENSP00000224721.8:p.Asp2958= | |
| ENST00000398788.4:c.2139C>T | ENSP00000381768.3:p.Asp713= | |
| ENST00000475158.1:n.2395C>T | ||
| ENST00000619887.4:c.2139C>T | ENSP00000478374.1:p.Asp713= | |
| ENST00000622827.4:c.8859C>T | ENSP00000483211.1:p.Asp2953= | |
| NM_001171933.1:c.2139C>T | NP_001165404.1:p.Asp713= | |
| NM_001171934.1:c.2139C>T | NP_001165405.1:p.Asp713= | |
| NM_022124.5:c.8859C>T | NP_071407.4:p.Asp2953= | |
| XM_006717940.2:c.9054C>T | XP_006718003.1:p.Asp3018= | |
| XM_006717942.2:c.8988C>T | XP_006718005.1:p.Asp2996= | |
| XM_011540039.1:c.9051C>T | XP_011538341.1:p.Asp3017= | |
| XM_011540040.1:c.9048C>T | XP_011538342.1:p.Asp3016= | |
| XM_011540041.1:c.8994C>T | XP_011538343.1:p.Asp2998= | |
| XM_011540042.1:c.8964C>T | XP_011538344.1:p.Asp2988= | |
| XM_011540043.1:c.9054C>T | XP_011538345.1:p.Asp3018= | |
| XM_011540044.1:c.8919C>T | XP_011538346.1:p.Asp2973= | |
| XM_011540045.1:c.9054C>T | XP_011538347.1:p.Asp3018= | |
| XM_011540046.1:c.8514C>T | XP_011538348.1:p.Asp2838= | |
| XM_011540047.1:c.7872C>T | XP_011538349.1:p.Asp2624= | |
| XM_011540052.1:c.5382C>T | XP_011538354.1:p.Asp1794= | |
| NM_022124.6:c.8859C>T MANE Select | NP_071407.4:p.Asp2953= |