Linked Data
ClinVar Variation Id:
1205941
dbSNP Id:
rs1374717198
gnomAD v2:
1-12025582-C-T
gnomAD v3:
1-11965525-C-T
gnomAD v4:
1-11965525-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965525C>T , CM000663.2:g.11965525C>T | GRCh38 |
| NC_000001.10:g.12025582C>T , CM000663.1:g.12025582C>T | GRCh37 |
| NC_000001.9:g.11948169C>T | NCBI36 |
| NG_008159.1:g.35837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1516C>T MANE Select | ENSP00000196061.4:p.Leu506Phe | |
| ENST00000196061.4:c.1516C>T | ENSP00000196061.4:p.Leu506Phe | |
| ENST00000470133.1:n.130C>T | ||
| ENST00000491536.5:n.144C>T | ||
| NM_000302.3:c.1516C>T | NP_000293.2:p.Leu506Phe | |
| NM_001316320.1:c.1657C>T | NP_001303249.1:p.Leu553Phe | |
| XM_011541594.1:c.1597C>T | XP_011539896.1:p.Leu533Phe | |
| XM_024447707.1:c.850C>T | XP_024303475.1:p.Leu284Phe | |
| NM_000302.4:c.1516C>T MANE Select | NP_000293.2:p.Leu506Phe | |
| NM_001316320.2:c.1657C>T | NP_001303249.1:p.Leu553Phe |