Linked Data
ClinVar Variation Id:
46031
dbSNP Id:
rs111033289
ExAC:
10:73560497 C / T
gnomAD v2:
10-73560497-C-T
gnomAD v3:
10-71800740-C-T
gnomAD v4:
10-71800740-C-T
PubMed:
PMID:18429043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71800740C>T , CM000672.2:g.71800740C>T | GRCh38 |
| NC_000010.10:g.73560497C>T , CM000672.1:g.73560497C>T | GRCh37 |
| NC_000010.9:g.73230503C>T | NCBI36 |
| NG_008835.1:g.408794C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.7467C>T MANE Select | ENSP00000224721.9:p.Arg2489= | |
| ENST00000642965.1:c.1400C>T | ENSP00000495222.1:n.1400C>T | |
| ENST00000647092.1:c.1064C>T | ENSP00000495176.1:n.1064C>T | |
| ENST00000224721.10:c.7482C>T | ENSP00000224721.8:p.Arg2494= | |
| ENST00000398788.4:c.747C>T | ENSP00000381768.3:p.Arg249= | |
| ENST00000475158.1:n.1003C>T | ||
| ENST00000619887.4:c.747C>T | ENSP00000478374.1:p.Arg249= | |
| ENST00000622827.4:c.7467C>T | ENSP00000483211.1:p.Arg2489= | |
| NM_001171933.1:c.747C>T | NP_001165404.1:p.Arg249= | |
| NM_001171934.1:c.747C>T | NP_001165405.1:p.Arg249= | |
| NM_022124.5:c.7467C>T | NP_071407.4:p.Arg2489= | |
| XM_006717940.2:c.7662C>T | XP_006718003.1:p.Arg2554= | |
| XM_006717942.2:c.7596C>T | XP_006718005.1:p.Arg2532= | |
| XM_011540039.1:c.7659C>T | XP_011538341.1:p.Arg2553= | |
| XM_011540040.1:c.7656C>T | XP_011538342.1:p.Arg2552= | |
| XM_011540041.1:c.7602C>T | XP_011538343.1:p.Arg2534= | |
| XM_011540042.1:c.7572C>T | XP_011538344.1:p.Arg2524= | |
| XM_011540043.1:c.7662C>T | XP_011538345.1:p.Arg2554= | |
| XM_011540044.1:c.7527C>T | XP_011538346.1:p.Arg2509= | |
| XM_011540045.1:c.7662C>T | XP_011538347.1:p.Arg2554= | |
| XM_011540046.1:c.7122C>T | XP_011538348.1:p.Arg2374= | |
| XM_011540047.1:c.6480C>T | XP_011538349.1:p.Arg2160= | |
| XM_011540052.1:c.3990C>T | XP_011538354.1:p.Arg1330= | |
| NM_022124.6:c.7467C>T MANE Select | NP_071407.4:p.Arg2489= |