Linked Data
ClinVar Variation Id:
471337
ClinVar RCV Id:
RCV000553098
dbSNP Id:
rs200166783
gnomAD v2:
17-48246592-G-T
gnomAD v4:
17-50169231-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169231G>T , CM000679.2:g.50169231G>T | GRCh38 |
| NC_000017.10:g.48246592G>T , CM000679.1:g.48246592G>T | GRCh37 |
| NC_000017.9:g.45601591G>T | NCBI36 |
| NG_008889.1:g.8227G>T , LRG_203:g.8227G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.597+127G>T | ENSP00000422030.2:n.597+127G>T | |
| ENST00000511303.6:n.309+659G>T | ||
| ENST00000512526.2:c.575+659G>T | ENSP00000426606.2:n.575+659G>T | |
| ENST00000682109.1:c.604G>T | ENSP00000508041.1:p.Val202Phe | |
| ENST00000683226.1:n.434G>T | ||
| ENST00000683294.1:c.724G>T | ENSP00000508134.1:p.Val242Phe | |
| ENST00000262018.8:c.724G>T MANE Select | ENSP00000262018.3:p.Val242Phe | |
| ENST00000262018.7:c.724G>T | ENSP00000262018.3:p.Val242Phe | |
| ENST00000344627.10:c.584+659G>T | ENSP00000345522.6:n.584+659G>T | |
| ENST00000502555.5:c.*383G>T | ENSP00000422817.1:n.*383G>T | |
| ENST00000504073.1:c.64+127G>T | ||
| ENST00000511303.5:c.305+659G>T | ENSP00000426104.1:n.305+659G>T | |
| ENST00000512526.1:c.419+659G>T | ||
| ENST00000513821.5:c.724G>T | ENSP00000426571.1:p.Val242Phe | |
| ENST00000513942.5:n.375+659G>T | ||
| NM_000023.2:c.724G>T , LRG_203t1:c.724G>T | NP_000014.1:p.Val242Phe | |
| NM_001135697.1:c.584+659G>T | NP_001129169.1:n.584+659G>T | |
| XM_011525120.1:c.724G>T | XP_011523422.1:p.Val242Phe | |
| XM_011525121.1:c.597+127G>T | XP_011523423.1:n.597+127G>T | |
| XM_011525122.1:c.724G>T | XP_011523424.1:p.Val242Phe | |
| XM_011525123.1:c.584+659G>T | XP_011523425.1:n.584+659G>T | |
| XM_011525124.1:c.418G>T | XP_011523426.1:p.Val140Phe | |
| XR_934517.1:n.790G>T | ||
| NM_000023.3:c.724G>T | NP_000014.1:p.Val242Phe | |
| NM_001135697.2:c.584+659G>T | NP_001129169.1:n.584+659G>T | |
| NR_135553.1:n.780G>T | ||
| XM_011525120.2:c.886G>T | XP_011523422.2:p.Val296Phe | |
| XM_011525121.2:c.759+127G>T | XP_011523423.2:n.759+127G>T | |
| XM_011525122.2:c.886G>T | XP_011523424.2:p.Val296Phe | |
| XM_011525123.2:c.746+659G>T | XP_011523425.2:n.746+659G>T | |
| XM_011525124.2:c.418G>T | XP_011523426.1:p.Val140Phe | |
| XM_024450873.1:c.418G>T | XP_024306641.1:p.Val140Phe | |
| XR_002958056.1:n.1242G>T | ||
| NM_000023.4:c.724G>T MANE Select | NP_000014.1:p.Val242Phe | |
| NM_001135697.3:c.584+659G>T | NP_001129169.1:n.584+659G>T | |
| NR_135553.2:n.760G>T |