Linked Data
ClinVar Variation Id:
46037
dbSNP Id:
rs111033483
ExAC:
10:73563027 C / T
gnomAD v2:
10-73563027-C-T
gnomAD v3:
10-71803270-C-T
gnomAD v4:
10-71803270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71803270C>T , CM000672.2:g.71803270C>T | GRCh38 |
| NC_000010.10:g.73563027C>T , CM000672.1:g.73563027C>T | GRCh37 |
| NC_000010.9:g.73233033C>T | NCBI36 |
| NG_008835.1:g.411324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7722C>T MANE Select | ENSP00000224721.9:p.Tyr2574= | |
| ENST00000642965.1:c.1655C>T | ENSP00000495222.1:n.1655C>T | |
| ENST00000647092.1:c.1319C>T | ENSP00000495176.1:n.1319C>T | |
| ENST00000224721.10:c.7737C>T | ENSP00000224721.8:p.Tyr2579= | |
| ENST00000398788.4:c.1002C>T | ENSP00000381768.3:p.Tyr334= | |
| ENST00000475158.1:n.1258C>T | ||
| ENST00000619887.4:c.1002C>T | ENSP00000478374.1:p.Tyr334= | |
| ENST00000622827.4:c.7722C>T | ENSP00000483211.1:p.Tyr2574= | |
| NM_001171933.1:c.1002C>T | NP_001165404.1:p.Tyr334= | |
| NM_001171934.1:c.1002C>T | NP_001165405.1:p.Tyr334= | |
| NM_022124.5:c.7722C>T | NP_071407.4:p.Tyr2574= | |
| XM_006717940.2:c.7917C>T | XP_006718003.1:p.Tyr2639= | |
| XM_006717942.2:c.7851C>T | XP_006718005.1:p.Tyr2617= | |
| XM_011540039.1:c.7914C>T | XP_011538341.1:p.Tyr2638= | |
| XM_011540040.1:c.7911C>T | XP_011538342.1:p.Tyr2637= | |
| XM_011540041.1:c.7857C>T | XP_011538343.1:p.Tyr2619= | |
| XM_011540042.1:c.7827C>T | XP_011538344.1:p.Tyr2609= | |
| XM_011540043.1:c.7917C>T | XP_011538345.1:p.Tyr2639= | |
| XM_011540044.1:c.7782C>T | XP_011538346.1:p.Tyr2594= | |
| XM_011540045.1:c.7917C>T | XP_011538347.1:p.Tyr2639= | |
| XM_011540046.1:c.7377C>T | XP_011538348.1:p.Tyr2459= | |
| XM_011540047.1:c.6735C>T | XP_011538349.1:p.Tyr2245= | |
| XM_011540052.1:c.4245C>T | XP_011538354.1:p.Tyr1415= | |
| NM_022124.6:c.7722C>T MANE Select | NP_071407.4:p.Tyr2574= |