Linked Data
ClinVar Variation Id:
1443684
ClinVar RCV Id:
RCV001981335
dbSNP Id:
rs2144488329
gnomAD v4:
17-50166053-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50166053C>G , CM000679.2:g.50166053C>G | GRCh38 |
| NC_000017.10:g.48243414C>G , CM000679.1:g.48243414C>G | GRCh37 |
| NC_000017.9:g.45598413C>G | NCBI36 |
| NG_008889.1:g.5049C>G , LRG_203:g.5049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.13C>G | ENSP00000422030.2:p.Leu5Val | |
| ENST00000511303.6:n.13C>G | ||
| ENST00000512526.2:c.13C>G | ENSP00000426606.2:p.Leu5Val | |
| ENST00000682109.1:c.13C>G | ENSP00000508041.1:p.Leu5Val | |
| ENST00000683294.1:c.13C>G | ENSP00000508134.1:p.Leu5Val | |
| ENST00000262018.8:c.13C>G MANE Select | ENSP00000262018.3:p.Leu5Val | |
| ENST00000262018.7:c.13C>G | ENSP00000262018.3:p.Leu5Val | |
| ENST00000344627.10:c.13C>G | ENSP00000345522.6:p.Leu5Val | |
| ENST00000502555.5:c.13C>G | ENSP00000422817.1:p.Leu5Val | |
| ENST00000511303.5:c.9C>G | ENSP00000426104.1:p.His3Gln | |
| ENST00000513821.5:c.13C>G | ENSP00000426571.1:p.Leu5Val | |
| ENST00000513942.5:n.103+1737C>G | ||
| ENST00000514934.1:c.13C>G | ENSP00000423168.1:p.Leu5Val | |
| NM_000023.2:c.13C>G , LRG_203t1:c.13C>G | NP_000014.1:p.Leu5Val | |
| NM_001135697.1:c.13C>G | NP_001129169.1:p.Leu5Val | |
| XM_011525120.1:c.13C>G | XP_011523422.1:p.Leu5Val | |
| XM_011525121.1:c.13C>G | XP_011523423.1:p.Leu5Val | |
| XM_011525122.1:c.13C>G | XP_011523424.1:p.Leu5Val | |
| XM_011525123.1:c.13C>G | XP_011523425.1:p.Leu5Val | |
| XM_011525124.1:c.-139C>G | XP_011523426.1:n.-139C>G | |
| XR_934517.1:n.79C>G | ||
| XR_934832.1:n.51G>C | ||
| XR_934833.1:n.51G>C | ||
| XR_934834.1:n.51G>C | ||
| XR_934835.1:n.51G>C | ||
| NM_000023.3:c.13C>G | NP_000014.1:p.Leu5Val | |
| NM_001135697.2:c.13C>G | NP_001129169.1:p.Leu5Val | |
| NR_135553.1:n.69C>G | ||
| XM_011525120.2:c.175C>G | XP_011523422.2:p.Leu59Val | |
| XM_011525121.2:c.175C>G | XP_011523423.2:p.Leu59Val | |
| XM_011525122.2:c.175C>G | XP_011523424.2:p.Leu59Val | |
| XM_011525123.2:c.175C>G | XP_011523425.2:p.Leu59Val | |
| XM_011525124.2:c.-139C>G | XP_011523426.1:n.-139C>G | |
| XM_024450873.1:c.-139C>G | XP_024306641.1:n.-139C>G | |
| XR_001752932.1:n.670G>C | ||
| XR_002958056.1:n.531C>G | ||
| XR_934832.2:n.670G>C | ||
| XR_934833.2:n.670G>C | ||
| XR_934835.2:n.670G>C | ||
| NM_000023.4:c.13C>G MANE Select | NP_000014.1:p.Leu5Val | |
| NM_001135697.3:c.13C>G | NP_001129169.1:p.Leu5Val | |
| NR_135553.2:n.49C>G |