Linked Data
ClinVar Variation Id:
717982
ClinVar RCV Id:
RCV000890860
dbSNP Id:
rs1059559
ExAC:
11:18291289 T / C
gnomAD v2:
11-18291289-T-C
gnomAD v3:
11-18269742-T-C
gnomAD v4:
11-18269742-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18269742T>C , CM000673.2:g.18269742T>C | GRCh38 |
| NC_000011.9:g.18291289T>C , CM000673.1:g.18291289T>C | GRCh37 |
| NC_000011.8:g.18247865T>C | NCBI36 |
| NG_021330.1:g.8482T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689650.1:c.*405T>C | ENSP00000509190.1:n.*405T>C | |
| ENST00000356524.9:c.256T>C MANE Select | ENSP00000348918.4:p.Phe86Leu | |
| ENST00000649195.1:c.*53T>C | ENSP00000497498.1:n.*53T>C | |
| ENST00000356524.8:c.256T>C | ENSP00000348918.4:p.Phe86Leu | |
| ENST00000405158.2:c.256T>C | ENSP00000384906.2:p.Phe86Leu | |
| ENST00000532858.5:c.256T>C | ENSP00000436866.1:p.Phe86Leu | |
| NM_000331.4:c.256T>C | NP_000322.2:p.Phe86Leu | |
| NM_001178006.1:c.256T>C | NP_001171477.1:p.Phe86Leu | |
| NM_199161.3:c.256T>C | NP_954630.1:p.Phe86Leu | |
| NM_000331.5:c.256T>C | NP_000322.2:p.Phe86Leu | |
| NM_001178006.2:c.256T>C | NP_001171477.1:p.Phe86Leu | |
| NM_199161.4:c.256T>C | NP_954630.1:p.Phe86Leu | |
| NM_199161.5:c.256T>C MANE Select | NP_954630.2:p.Phe86Leu | |
| NM_000331.6:c.256T>C | NP_000322.3:p.Phe86Leu | |
| NM_001178006.3:c.256T>C | NP_001171477.2:p.Phe86Leu |