Linked Data
dbSNP Id:
rs754279934
ExAC:
10:75842245 A / C
gnomAD v2:
10-75842245-A-C
gnomAD v4:
10-74082487-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74082487A>C , CM000672.2:g.74082487A>C | GRCh38 |
| NC_000010.10:g.75842245A>C , CM000672.1:g.75842245A>C | GRCh37 |
| NC_000010.9:g.75512251A>C | NCBI36 |
| NG_008868.1:g.89374A>C , LRG_383:g.89374A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.817A>C MANE Select | ENSP00000211998.5:p.Ile273Leu | |
| ENST00000211998.8:c.817A>C | ENSP00000211998.4:p.Ile273Leu | |
| ENST00000372755.7:c.817A>C | ENSP00000361841.3:p.Ile273Leu | |
| ENST00000478896.2:n.332-18567A>C | ||
| ENST00000623461.3:n.3620A>C | ||
| ENST00000624354.3:c.*572A>C | ENSP00000485551.1:n.*572A>C | |
| NM_003373.3:c.817A>C | NP_003364.1:p.Ile273Leu | |
| NM_014000.2:c.817A>C , LRG_383t1:c.817A>C | NP_054706.1:p.Ile273Leu | |
| XM_005270142.1:c.820A>C | XP_005270199.1:p.Ile274Leu | |
| XM_005270143.1:c.820A>C | XP_005270200.1:p.Ile274Leu | |
| XR_001747501.1:n.90-4760T>G | ||
| NM_003373.4:c.817A>C | NP_003364.1:p.Ile273Leu | |
| NM_014000.3:c.817A>C MANE Select | NP_054706.1:p.Ile273Leu |