Linked Data
dbSNP Id:
rs1182786689
gnomAD v2:
2-202490785-A-G
gnomAD v3:
2-201626062-A-G
gnomAD v4:
2-201626062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201626062A>G , CM000664.2:g.201626062A>G | GRCh38 |
| NC_000002.11:g.202490785A>G , CM000664.1:g.202490785A>G | GRCh37 |
| NC_000002.10:g.202199030A>G | NCBI36 |
| NG_032049.1:g.22468T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.919T>C | ||
| ENST00000621467.5:c.997T>C | ENSP00000480508.2:p.Phe333Leu | |
| ENST00000686475.1:n.1063T>C | ||
| ENST00000409883.7:c.1123T>C MANE Select | ENSP00000386264.2:p.Phe375Leu | |
| ENST00000286196.9:c.*687T>C | ENSP00000286196.5:n.*687T>C | |
| ENST00000409444.6:c.1099T>C | ENSP00000387203.2:p.Phe367Leu | |
| ENST00000409883.6:c.1123T>C | ENSP00000386264.2:p.Phe375Leu | |
| ENST00000471318.5:n.351T>C | ||
| ENST00000495329.1:n.262T>C | ||
| ENST00000621467.4:c.1099T>C | ENSP00000480508.1:p.Phe367Leu | |
| NM_001044385.2:c.1123T>C | NP_001037850.1:p.Phe375Leu | |
| NM_152388.3:c.1099T>C | NP_689601.2:p.Phe367Leu | |
| NM_001044385.3:c.1123T>C MANE Select | NP_001037850.1:p.Phe375Leu | |
| NM_152388.4:c.1099T>C | NP_689601.2:p.Phe367Leu |