Linked Data
dbSNP Id:
rs1006514014
gnomAD v2:
19-616017-T-G
gnomAD v3:
19-616017-T-G
gnomAD v4:
19-616017-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.616017T>G , CM000681.2:g.616017T>G | GRCh38 |
| NC_000019.9:g.616017T>G , CM000681.1:g.616017T>G | GRCh37 |
| NC_000019.8:g.567017T>G | NCBI36 |
| NG_023049.1:g.22552A>C | |
| NG_052810.1:g.31125T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2213T>G MANE Select | ENSP00000251287.1:p.Phe738Cys | |
| ENST00000251287.2:c.2213T>G | ENSP00000251287.1:p.Phe738Cys | |
| NM_001194.3:c.2213T>G | NP_001185.3:p.Phe738Cys | |
| NM_001194.4:c.2213T>G MANE Select | NP_001185.3:p.Phe738Cys |