Linked Data
ClinVar Variation Id:
300786
dbSNP Id:
rs148619523
ExAC:
10:75848971 C / T
gnomAD v2:
10-75848971-C-T
gnomAD v3:
10-74089213-C-T
gnomAD v4:
10-74089213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74089213C>T , CM000672.2:g.74089213C>T | GRCh38 |
| NC_000010.10:g.75848971C>T , CM000672.1:g.75848971C>T | GRCh37 |
| NC_000010.9:g.75518977C>T | NCBI36 |
| NG_008868.1:g.96100C>T , LRG_383:g.96100C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.1040C>T MANE Select | ENSP00000211998.5:p.Pro347Leu | |
| ENST00000211998.8:c.1040C>T | ENSP00000211998.4:p.Pro347Leu | |
| ENST00000372755.7:c.1040C>T | ENSP00000361841.3:p.Pro347Leu | |
| ENST00000436396.1:c.56C>T | ENSP00000415489.1:p.Pro19Leu | |
| ENST00000478896.2:n.332-11841C>T | ||
| ENST00000623461.3:n.3843C>T | ||
| ENST00000624354.3:c.*795C>T | ENSP00000485551.1:n.*795C>T | |
| NM_003373.3:c.1040C>T | NP_003364.1:p.Pro347Leu | |
| NM_014000.2:c.1040C>T , LRG_383t1:c.1040C>T | NP_054706.1:p.Pro347Leu | |
| XM_005270142.1:c.1043C>T | XP_005270199.1:p.Pro348Leu | |
| XM_005270143.1:c.1043C>T | XP_005270200.1:p.Pro348Leu | |
| XR_001747501.1:n.89+719G>A | ||
| NM_003373.4:c.1040C>T | NP_003364.1:p.Pro347Leu | |
| NM_014000.3:c.1040C>T MANE Select | NP_054706.1:p.Pro347Leu |