Linked Data
ClinVar Variation Id:
2548800
ClinVar RCV Id:
RCV004315578
dbSNP Id:
rs117289933
ExAC:
19:45910365 C / G
gnomAD v2:
19-45910365-C-G
gnomAD v3:
19-45407107-C-G
gnomAD v4:
19-45407107-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407107C>G , CM000681.2:g.45407107C>G | GRCh38 |
| NC_000019.9:g.45910365C>G , CM000681.1:g.45910365C>G | GRCh37 |
| NC_000019.8:g.50602205C>G | NCBI36 |
| NG_015839.2:g.76722G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.36C>G MANE Select | ENSP00000310966.3:p.Phe12Leu | |
| ENST00000309424.7:c.36C>G | ENSP00000310966.3:p.Phe12Leu | |
| ENST00000589804.1:c.42C>G | ENSP00000465099.1:p.Phe14Leu | |
| ENST00000590794.1:c.20+389C>G | ||
| ENST00000592852.1:c.-499C>G | ENSP00000467771.1:n.-499C>G | |
| NM_001297590.1:c.42C>G | NP_001284519.1:p.Phe14Leu | |
| NM_012099.1:c.36C>G | NP_036231.1:p.Phe12Leu | |
| NM_001297590.2:c.42C>G | NP_001284519.1:p.Phe14Leu | |
| NM_012099.2:c.36C>G | NP_036231.1:p.Phe12Leu | |
| NM_001297590.3:c.42C>G | NP_001284519.1:p.Phe14Leu | |
| NM_012099.3:c.36C>G MANE Select | NP_036231.1:p.Phe12Leu |