Linked Data
ClinVar Variation Id:
290211
ClinVar RCV Id:
RCV000280204
dbSNP Id:
rs886044382
gnomAD v4:
17-50168547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168547C>T , CM000679.2:g.50168547C>T | GRCh38 |
| NC_000017.10:g.48245908C>T , CM000679.1:g.48245908C>T | GRCh37 |
| NC_000017.9:g.45600907C>T | NCBI36 |
| NG_008889.1:g.7543C>T , LRG_203:g.7543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.559C>T | ENSP00000422030.2:p.Leu187Phe | |
| ENST00000511303.6:n.284C>T | ||
| ENST00000512526.2:c.550C>T | ENSP00000426606.2:n.550C>T | |
| ENST00000682109.1:c.439C>T | ENSP00000508041.1:p.Leu147Phe | |
| ENST00000683226.1:n.269C>T | ||
| ENST00000683294.1:c.559C>T | ENSP00000508134.1:p.Leu187Phe | |
| ENST00000262018.8:c.559C>T MANE Select | ENSP00000262018.3:p.Leu187Phe | |
| ENST00000262018.7:c.559C>T | ENSP00000262018.3:p.Leu187Phe | |
| ENST00000344627.10:c.559C>T | ENSP00000345522.6:p.Leu187Phe | |
| ENST00000502555.5:c.*218C>T | ENSP00000422817.1:n.*218C>T | |
| ENST00000504073.1:c.26C>T | ||
| ENST00000511303.5:c.280C>T | ENSP00000426104.1:p.Leu94Phe | |
| ENST00000512526.1:c.394C>T | ||
| ENST00000513821.5:c.559C>T | ENSP00000426571.1:p.Leu187Phe | |
| ENST00000513942.5:n.350C>T | ||
| ENST00000514934.1:c.*265C>T | ENSP00000423168.1:n.*265C>T | |
| NM_000023.2:c.559C>T , LRG_203t1:c.559C>T | NP_000014.1:p.Leu187Phe | |
| NM_001135697.1:c.559C>T | NP_001129169.1:p.Leu187Phe | |
| XM_011525120.1:c.559C>T | XP_011523422.1:p.Leu187Phe | |
| XM_011525121.1:c.559C>T | XP_011523423.1:p.Leu187Phe | |
| XM_011525122.1:c.559C>T | XP_011523424.1:p.Leu187Phe | |
| XM_011525123.1:c.559C>T | XP_011523425.1:p.Leu187Phe | |
| XM_011525124.1:c.253C>T | XP_011523426.1:p.Leu85Phe | |
| XR_934517.1:n.625C>T | ||
| NM_000023.3:c.559C>T | NP_000014.1:p.Leu187Phe | |
| NM_001135697.2:c.559C>T | NP_001129169.1:p.Leu187Phe | |
| NR_135553.1:n.615C>T | ||
| XM_011525120.2:c.721C>T | XP_011523422.2:p.Leu241Phe | |
| XM_011525121.2:c.721C>T | XP_011523423.2:p.Leu241Phe | |
| XM_011525122.2:c.721C>T | XP_011523424.2:p.Leu241Phe | |
| XM_011525123.2:c.721C>T | XP_011523425.2:p.Leu241Phe | |
| XM_011525124.2:c.253C>T | XP_011523426.1:p.Leu85Phe | |
| XM_024450873.1:c.253C>T | XP_024306641.1:p.Leu85Phe | |
| XR_002958056.1:n.1077C>T | ||
| NM_000023.4:c.559C>T MANE Select | NP_000014.1:p.Leu187Phe | |
| NM_001135697.3:c.559C>T | NP_001129169.1:p.Leu187Phe | |
| NR_135553.2:n.595C>T |