Linked Data
ClinVar Variation Id:
198382
dbSNP Id:
rs769688229
ExAC:
17:48247545 C / A
gnomAD v2:
17-48247545-C-A
gnomAD v3:
17-50170184-C-A
gnomAD v4:
17-50170184-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50170184C>A , CM000679.2:g.50170184C>A | GRCh38 |
| NC_000017.10:g.48247545C>A , CM000679.1:g.48247545C>A | GRCh37 |
| NC_000017.9:g.45602544C>A | NCBI36 |
| NG_008889.1:g.9180C>A , LRG_203:g.9180C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.639C>A | ENSP00000422030.2:p.Thr213= | |
| ENST00000511303.6:n.310-456C>A | ||
| ENST00000512526.2:c.576-456C>A | ENSP00000426606.2:n.576-456C>A | |
| ENST00000682109.1:c.669C>A | ENSP00000508041.1:p.Thr223= | |
| ENST00000683226.1:n.1387C>A | ||
| ENST00000683294.1:c.*55C>A | ENSP00000508134.1:n.*55C>A | |
| ENST00000683544.1:n.155C>A | ||
| ENST00000262018.8:c.789C>A MANE Select | ENSP00000262018.3:p.Thr263= | |
| ENST00000262018.7:c.789C>A | ENSP00000262018.3:p.Thr263= | |
| ENST00000344627.10:c.585-456C>A | ENSP00000345522.6:n.585-456C>A | |
| ENST00000504073.1:c.106C>A | ||
| ENST00000511303.5:c.306-456C>A | ENSP00000426104.1:n.306-456C>A | |
| ENST00000512526.1:c.420-456C>A | ||
| ENST00000513821.5:c.748-456C>A | ENSP00000426571.1:n.748-456C>A | |
| ENST00000513942.5:n.376-456C>A | ||
| NM_000023.2:c.789C>A , LRG_203t1:c.789C>A | NP_000014.1:p.Thr263= | |
| NM_001135697.1:c.585-456C>A | NP_001129169.1:n.585-456C>A | |
| XM_011525120.1:c.789C>A | XP_011523422.1:p.Thr263= | |
| XM_011525121.1:c.639C>A | XP_011523423.1:p.Thr213= | |
| XM_011525122.1:c.748-456C>A | XP_011523424.1:n.748-456C>A | |
| XM_011525123.1:c.585-456C>A | XP_011523425.1:n.585-456C>A | |
| XM_011525124.1:c.483C>A | XP_011523426.1:p.Thr161= | |
| XR_934517.1:n.814-456C>A | ||
| NM_000023.3:c.789C>A | NP_000014.1:p.Thr263= | |
| NM_001135697.2:c.585-456C>A | NP_001129169.1:n.585-456C>A | |
| NR_135553.1:n.804-456C>A | ||
| XM_011525120.2:c.951C>A | XP_011523422.2:p.Thr317= | |
| XM_011525121.2:c.801C>A | XP_011523423.2:p.Thr267= | |
| XM_011525122.2:c.910-456C>A | XP_011523424.2:n.910-456C>A | |
| XM_011525123.2:c.747-456C>A | XP_011523425.2:n.747-456C>A | |
| XM_011525124.2:c.483C>A | XP_011523426.1:p.Thr161= | |
| XM_024450873.1:c.483C>A | XP_024306641.1:p.Thr161= | |
| XR_002958056.1:n.1386C>A | ||
| NM_000023.4:c.789C>A MANE Select | NP_000014.1:p.Thr263= | |
| NM_001135697.3:c.585-456C>A | NP_001129169.1:n.585-456C>A | |
| NR_135553.2:n.784-456C>A |