Linked Data
ClinVar Variation Id:
488174
dbSNP Id:
rs144683137
ExAC:
10:75834503 A / T
gnomAD v2:
10-75834503-A-T
gnomAD v3:
10-74074745-A-T
gnomAD v4:
10-74074745-A-T
PubMed:
PMID:26458567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74074745A>T , CM000672.2:g.74074745A>T | GRCh38 |
| NC_000010.10:g.75834503A>T , CM000672.1:g.75834503A>T | GRCh37 |
| NC_000010.9:g.75504509A>T | NCBI36 |
| NG_008868.1:g.81632A>T , LRG_383:g.81632A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.625A>T MANE Select | ENSP00000211998.5:p.Met209Leu | |
| ENST00000211998.8:c.625A>T | ENSP00000211998.4:p.Met209Leu | |
| ENST00000372755.7:c.625A>T | ENSP00000361841.3:p.Met209Leu | |
| ENST00000478896.2:n.332-26309A>T | ||
| ENST00000623461.3:n.583A>T | ||
| ENST00000624354.3:c.*380A>T | ENSP00000485551.1:n.*380A>T | |
| NM_003373.3:c.625A>T | NP_003364.1:p.Met209Leu | |
| NM_014000.2:c.625A>T , LRG_383t1:c.625A>T | NP_054706.1:p.Met209Leu | |
| XM_005270142.1:c.625A>T | XP_005270199.1:p.Met209Leu | |
| XM_005270143.1:c.625A>T | XP_005270200.1:p.Met209Leu | |
| NM_003373.4:c.625A>T | NP_003364.1:p.Met209Leu | |
| NM_014000.3:c.625A>T MANE Select | NP_054706.1:p.Met209Leu |