Linked Data
ClinVar Variation Id:
289773
dbSNP Id:
rs201518390
ExAC:
17:48245904 C / A
gnomAD v2:
17-48245904-C-A
gnomAD v3:
17-50168543-C-A
gnomAD v4:
17-50168543-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168543C>A , CM000679.2:g.50168543C>A | GRCh38 |
| NC_000017.10:g.48245904C>A , CM000679.1:g.48245904C>A | GRCh37 |
| NC_000017.9:g.45600903C>A | NCBI36 |
| NG_008889.1:g.7539C>A , LRG_203:g.7539C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.555C>A | ENSP00000422030.2:p.Val185= | |
| ENST00000511303.6:n.280C>A | ||
| ENST00000512526.2:c.546C>A | ENSP00000426606.2:n.546C>A | |
| ENST00000682109.1:c.435C>A | ENSP00000508041.1:p.Val145= | |
| ENST00000683226.1:n.265C>A | ||
| ENST00000683294.1:c.555C>A | ENSP00000508134.1:p.Val185= | |
| ENST00000262018.8:c.555C>A MANE Select | ENSP00000262018.3:p.Val185= | |
| ENST00000262018.7:c.555C>A | ENSP00000262018.3:p.Val185= | |
| ENST00000344627.10:c.555C>A | ENSP00000345522.6:p.Val185= | |
| ENST00000502555.5:c.*214C>A | ENSP00000422817.1:n.*214C>A | |
| ENST00000504073.1:c.22C>A | ||
| ENST00000511303.5:c.276C>A | ENSP00000426104.1:p.Val92= | |
| ENST00000512526.1:c.390C>A | ||
| ENST00000513821.5:c.555C>A | ENSP00000426571.1:p.Val185= | |
| ENST00000513942.5:n.346C>A | ||
| ENST00000514934.1:c.*261C>A | ENSP00000423168.1:n.*261C>A | |
| NM_000023.2:c.555C>A , LRG_203t1:c.555C>A | NP_000014.1:p.Val185= | |
| NM_001135697.1:c.555C>A | NP_001129169.1:p.Val185= | |
| XM_011525120.1:c.555C>A | XP_011523422.1:p.Val185= | |
| XM_011525121.1:c.555C>A | XP_011523423.1:p.Val185= | |
| XM_011525122.1:c.555C>A | XP_011523424.1:p.Val185= | |
| XM_011525123.1:c.555C>A | XP_011523425.1:p.Val185= | |
| XM_011525124.1:c.249C>A | XP_011523426.1:p.Val83= | |
| XR_934517.1:n.621C>A | ||
| NM_000023.3:c.555C>A | NP_000014.1:p.Val185= | |
| NM_001135697.2:c.555C>A | NP_001129169.1:p.Val185= | |
| NR_135553.1:n.611C>A | ||
| XM_011525120.2:c.717C>A | XP_011523422.2:p.Val239= | |
| XM_011525121.2:c.717C>A | XP_011523423.2:p.Val239= | |
| XM_011525122.2:c.717C>A | XP_011523424.2:p.Val239= | |
| XM_011525123.2:c.717C>A | XP_011523425.2:p.Val239= | |
| XM_011525124.2:c.249C>A | XP_011523426.1:p.Val83= | |
| XM_024450873.1:c.249C>A | XP_024306641.1:p.Val83= | |
| XR_002958056.1:n.1073C>A | ||
| NM_000023.4:c.555C>A MANE Select | NP_000014.1:p.Val185= | |
| NM_001135697.3:c.555C>A | NP_001129169.1:p.Val185= | |
| NR_135553.2:n.591C>A |