Linked Data
ClinVar Variation Id:
9439
dbSNP Id:
rs137852623
ExAC:
17:48247606 C / T
gnomAD v2:
17-48247606-C-T
gnomAD v3:
17-50170245-C-T
gnomAD v4:
17-50170245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50170245C>T , CM000679.2:g.50170245C>T | GRCh38 |
| NC_000017.10:g.48247606C>T , CM000679.1:g.48247606C>T | GRCh37 |
| NC_000017.9:g.45602605C>T | NCBI36 |
| NG_008889.1:g.9241C>T , LRG_203:g.9241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.700C>T | ENSP00000422030.2:p.Arg234Cys | |
| ENST00000511303.6:n.310-395C>T | ||
| ENST00000512526.2:c.576-395C>T | ENSP00000426606.2:n.576-395C>T | |
| ENST00000682109.1:c.730C>T | ENSP00000508041.1:p.Arg244Cys | |
| ENST00000683226.1:n.1448C>T | ||
| ENST00000683294.1:c.*59+57C>T | ENSP00000508134.1:n.*59+57C>T | |
| ENST00000683544.1:n.216C>T | ||
| ENST00000262018.8:c.850C>T MANE Select | ENSP00000262018.3:p.Arg284Cys | |
| ENST00000262018.7:c.850C>T | ENSP00000262018.3:p.Arg284Cys | |
| ENST00000344627.10:c.585-395C>T | ENSP00000345522.6:n.585-395C>T | |
| ENST00000504073.1:c.167C>T | ||
| ENST00000511303.5:c.306-395C>T | ENSP00000426104.1:n.306-395C>T | |
| ENST00000512526.1:c.420-395C>T | ||
| ENST00000513821.5:c.748-395C>T | ENSP00000426571.1:n.748-395C>T | |
| ENST00000513942.5:n.376-395C>T | ||
| NM_000023.2:c.850C>T , LRG_203t1:c.850C>T | NP_000014.1:p.Arg284Cys | |
| NM_001135697.1:c.585-395C>T | NP_001129169.1:n.585-395C>T | |
| XM_011525120.1:c.850C>T | XP_011523422.1:p.Arg284Cys | |
| XM_011525121.1:c.700C>T | XP_011523423.1:p.Arg234Cys | |
| XM_011525122.1:c.748-395C>T | XP_011523424.1:n.748-395C>T | |
| XM_011525123.1:c.585-395C>T | XP_011523425.1:n.585-395C>T | |
| XM_011525124.1:c.544C>T | XP_011523426.1:p.Arg182Cys | |
| XR_934517.1:n.814-395C>T | ||
| NM_000023.3:c.850C>T | NP_000014.1:p.Arg284Cys | |
| NM_001135697.2:c.585-395C>T | NP_001129169.1:n.585-395C>T | |
| NR_135553.1:n.804-395C>T | ||
| XM_011525120.2:c.1012C>T | XP_011523422.2:p.Arg338Cys | |
| XM_011525121.2:c.862C>T | XP_011523423.2:p.Arg288Cys | |
| XM_011525122.2:c.910-395C>T | XP_011523424.2:n.910-395C>T | |
| XM_011525123.2:c.747-395C>T | XP_011523425.2:n.747-395C>T | |
| XM_011525124.2:c.544C>T | XP_011523426.1:p.Arg182Cys | |
| XM_024450873.1:c.544C>T | XP_024306641.1:p.Arg182Cys | |
| XR_002958056.1:n.1447C>T | ||
| NM_000023.4:c.850C>T MANE Select | NP_000014.1:p.Arg284Cys | |
| NM_001135697.3:c.585-395C>T | NP_001129169.1:n.585-395C>T | |
| NR_135553.2:n.784-395C>T |