Linked Data
ClinVar Variation Id:
281388
dbSNP Id:
rs35972733
ExAC:
17:48247575 G / T
gnomAD v2:
17-48247575-G-T
gnomAD v3:
17-50170214-G-T
gnomAD v4:
17-50170214-G-T
MyVariant Identifiers:
chr17:g.48247575G>T (hg19)
chr17:g.48247575_48247578delinsTTTC (hg19)
chr17:g.50170214G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50170214G>T , CM000679.2:g.50170214G>T | GRCh38 |
| NC_000017.10:g.48247575G>T , CM000679.1:g.48247575G>T | GRCh37 |
| NC_000017.9:g.45602574G>T | NCBI36 |
| NG_008889.1:g.9210G>T , LRG_203:g.9210G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.669G>T | ENSP00000422030.2:p.Pro223= | |
| ENST00000511303.6:n.310-426G>T | ||
| ENST00000512526.2:c.576-426G>T | ENSP00000426606.2:n.576-426G>T | |
| ENST00000682109.1:c.699G>T | ENSP00000508041.1:p.Pro233= | |
| ENST00000683226.1:n.1417G>T | ||
| ENST00000683294.1:c.*59+26G>T | ENSP00000508134.1:n.*59+26G>T | |
| ENST00000683544.1:n.185G>T | ||
| ENST00000262018.8:c.819G>T MANE Select | ENSP00000262018.3:p.Pro273= | |
| ENST00000262018.7:c.819G>T | ENSP00000262018.3:p.Pro273= | |
| ENST00000344627.10:c.585-426G>T | ENSP00000345522.6:n.585-426G>T | |
| ENST00000504073.1:c.136G>T | ||
| ENST00000511303.5:c.306-426G>T | ENSP00000426104.1:n.306-426G>T | |
| ENST00000512526.1:c.420-426G>T | ||
| ENST00000513821.5:c.748-426G>T | ENSP00000426571.1:n.748-426G>T | |
| ENST00000513942.5:n.376-426G>T | ||
| NM_000023.2:c.819G>T , LRG_203t1:c.819G>T | NP_000014.1:p.Pro273= | |
| NM_001135697.1:c.585-426G>T | NP_001129169.1:n.585-426G>T | |
| XM_011525120.1:c.819G>T | XP_011523422.1:p.Pro273= | |
| XM_011525121.1:c.669G>T | XP_011523423.1:p.Pro223= | |
| XM_011525122.1:c.748-426G>T | XP_011523424.1:n.748-426G>T | |
| XM_011525123.1:c.585-426G>T | XP_011523425.1:n.585-426G>T | |
| XM_011525124.1:c.513G>T | XP_011523426.1:p.Pro171= | |
| XR_934517.1:n.814-426G>T | ||
| NM_000023.3:c.819G>T | NP_000014.1:p.Pro273= | |
| NM_001135697.2:c.585-426G>T | NP_001129169.1:n.585-426G>T | |
| NR_135553.1:n.804-426G>T | ||
| XM_011525120.2:c.981G>T | XP_011523422.2:p.Pro327= | |
| XM_011525121.2:c.831G>T | XP_011523423.2:p.Pro277= | |
| XM_011525122.2:c.910-426G>T | XP_011523424.2:n.910-426G>T | |
| XM_011525123.2:c.747-426G>T | XP_011523425.2:n.747-426G>T | |
| XM_011525124.2:c.513G>T | XP_011523426.1:p.Pro171= | |
| XM_024450873.1:c.513G>T | XP_024306641.1:p.Pro171= | |
| XR_002958056.1:n.1416G>T | ||
| NM_000023.4:c.819G>T MANE Select | NP_000014.1:p.Pro273= | |
| NM_001135697.3:c.585-426G>T | NP_001129169.1:n.585-426G>T | |
| NR_135553.2:n.784-426G>T |