Linked Data
ClinVar Variation Id:
2608517
ClinVar RCV Id:
RCV004351269
dbSNP Id:
rs1948739074
gnomAD v4:
2-226914315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226914315C>T , CM000664.2:g.226914315C>T | GRCh38 |
| NC_000002.11:g.227779031C>T , CM000664.1:g.227779031C>T | GRCh37 |
| NC_000002.10:g.227487275C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392062.7:c.820C>T MANE Select | ENSP00000375914.2:p.Leu274Phe | |
| ENST00000341329.7:c.820C>T | ENSP00000344779.3:p.Leu274Phe | |
| ENST00000392062.6:c.820C>T | ENSP00000375914.2:p.Leu274Phe | |
| ENST00000409053.1:c.322C>T | ENSP00000387269.1:p.Leu108Phe | |
| ENST00000473218.5:n.196C>T | ||
| ENST00000491490.5:n.440C>T | ||
| ENST00000493526.1:n.496C>T | ||
| NM_001167608.1:c.820C>T | NP_001161080.1:p.Leu274Phe | |
| NM_032276.3:c.820C>T | NP_115652.2:p.Leu274Phe | |
| XR_923036.1:n.884C>T | ||
| XR_923037.1:n.1255C>T | ||
| XR_923038.1:n.2399C>T | ||
| XR_923039.1:n.1062C>T | ||
| XR_923040.1:n.1024C>T | ||
| NM_001167608.2:c.820C>T | NP_001161080.1:p.Leu274Phe | |
| NM_001349069.1:c.820C>T | NP_001335998.1:p.Leu274Phe | |
| NM_001349071.1:c.820C>T | NP_001336000.1:p.Leu274Phe | |
| NM_001349072.1:c.820C>T | NP_001336001.1:p.Leu274Phe | |
| NM_032276.4:c.820C>T | NP_115652.2:p.Leu274Phe | |
| XM_017005083.1:c.820C>T | XP_016860572.1:p.Leu274Phe | |
| XM_017005084.2:c.820C>T | XP_016860573.1:p.Leu274Phe | |
| XM_017005085.2:c.820C>T | XP_016860574.1:p.Leu274Phe | |
| XM_017005086.2:c.820C>T | XP_016860575.1:p.Leu274Phe | |
| XM_017005087.2:c.820C>T | XP_016860576.1:p.Leu274Phe | |
| XM_017005088.1:c.820C>T | XP_016860577.1:p.Leu274Phe | |
| XM_017005090.2:c.820C>T | XP_016860579.1:p.Leu274Phe | |
| XM_017005092.2:c.820C>T | XP_016860581.1:p.Leu274Phe | |
| XM_017005093.1:c.820C>T | XP_016860582.1:p.Leu274Phe | |
| XM_017005094.1:c.820C>T | XP_016860583.1:p.Leu274Phe | |
| XM_017005095.1:c.820C>T | XP_016860584.1:p.Leu274Phe | |
| XR_001738982.2:n.1338C>T | ||
| XR_001738983.2:n.2637C>T | ||
| XR_001738984.2:n.1255C>T | ||
| XR_001738985.2:n.2623C>T | ||
| XR_001738986.2:n.1156C>T | ||
| XR_001738987.2:n.2404C>T | ||
| XR_001738988.2:n.1025C>T | ||
| XR_001738989.2:n.1119C>T | ||
| XR_001738990.2:n.1024C>T | ||
| XR_001738991.2:n.2336C>T | ||
| NM_001167608.3:c.820C>T MANE Select | NP_001161080.1:p.Leu274Phe | |
| NM_001349071.2:c.820C>T | NP_001336000.1:p.Leu274Phe | |
| NM_001349072.2:c.820C>T | NP_001336001.1:p.Leu274Phe | |
| NM_032276.5:c.820C>T | NP_115652.2:p.Leu274Phe | |
| NM_001349069.2:c.820C>T | NP_001335998.1:p.Leu274Phe |