Linked Data
ClinVar Variation Id:
2172550
ClinVar RCV Id:
RCV003083102
dbSNP Id:
rs766555792
ExAC:
11:67379891 T / G
gnomAD v2:
11-67379891-T-G
gnomAD v4:
11-67612420-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67612420T>G , CM000673.2:g.67612420T>G | GRCh38 |
| NC_000011.9:g.67379891T>G , CM000673.1:g.67379891T>G | GRCh37 |
| NC_000011.8:g.67136467T>G | NCBI36 |
| NG_013353.1:g.10569T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1357T>G MANE Select | ENSP00000322450.6:p.Phe453Val | |
| ENST00000647561.1:c.1357T>G | ENSP00000497587.1:p.Phe453Val | |
| ENST00000322776.10:c.1357T>G | ENSP00000322450.6:p.Phe453Val | |
| ENST00000415352.6:c.1336T>G | ENSP00000395368.2:p.Phe446Val | |
| ENST00000526770.5:n.1640T>G | ||
| ENST00000527355.5:c.564T>G | ENSP00000432637.1:n.564T>G | |
| ENST00000529927.5:c.1330T>G | ENSP00000436766.1:p.Phe444Val | |
| ENST00000531250.1:n.621T>G | ||
| ENST00000532303.5:c.1054T>G | ENSP00000432015.1:p.Phe352Val | |
| ENST00000533919.5:c.761T>G | ENSP00000435199.1:n.761T>G | |
| NM_001166102.1:c.1330T>G | NP_001159574.1:p.Phe444Val | |
| NM_007103.3:c.1357T>G | NP_009034.2:p.Phe453Val | |
| NM_001166102.2:c.1330T>G | NP_001159574.1:p.Phe444Val | |
| NM_007103.4:c.1357T>G MANE Select | NP_009034.2:p.Phe453Val |