Linked Data
ClinVar Variation Id:
289794
dbSNP Id:
rs757481230
ExAC:
17:48246482 C / A
gnomAD v2:
17-48246482-C-A
gnomAD v3:
17-50169121-C-A
gnomAD v4:
17-50169121-C-A
MyVariant Identifiers:
chr17:g.48246482C>A (hg19)
chr17:g.48246482_48246483delinsAT (hg19)
chr17:g.50169121C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169121C>A , CM000679.2:g.50169121C>A | GRCh38 |
| NC_000017.10:g.48246482C>A , CM000679.1:g.48246482C>A | GRCh37 |
| NC_000017.9:g.45601481C>A | NCBI36 |
| NG_008889.1:g.8117C>A , LRG_203:g.8117C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.597+17C>A | ENSP00000422030.2:n.597+17C>A | |
| ENST00000511303.6:n.309+549C>A | ||
| ENST00000512526.2:c.575+549C>A | ENSP00000426606.2:n.575+549C>A | |
| ENST00000682109.1:c.494C>A | ENSP00000508041.1:p.Pro165His | |
| ENST00000683226.1:n.324C>A | ||
| ENST00000683294.1:c.614C>A | ENSP00000508134.1:p.Pro205His | |
| ENST00000262018.8:c.614C>A MANE Select | ENSP00000262018.3:p.Pro205His | |
| ENST00000262018.7:c.614C>A | ENSP00000262018.3:p.Pro205His | |
| ENST00000344627.10:c.584+549C>A | ENSP00000345522.6:n.584+549C>A | |
| ENST00000502555.5:c.*273C>A | ENSP00000422817.1:n.*273C>A | |
| ENST00000504073.1:c.64+17C>A | ||
| ENST00000511303.5:c.305+549C>A | ENSP00000426104.1:n.305+549C>A | |
| ENST00000512526.1:c.419+549C>A | ||
| ENST00000513821.5:c.614C>A | ENSP00000426571.1:p.Pro205His | |
| ENST00000513942.5:n.375+549C>A | ||
| NM_000023.2:c.614C>A , LRG_203t1:c.614C>A | NP_000014.1:p.Pro205His | |
| NM_001135697.1:c.584+549C>A | NP_001129169.1:n.584+549C>A | |
| XM_011525120.1:c.614C>A | XP_011523422.1:p.Pro205His | |
| XM_011525121.1:c.597+17C>A | XP_011523423.1:n.597+17C>A | |
| XM_011525122.1:c.614C>A | XP_011523424.1:p.Pro205His | |
| XM_011525123.1:c.584+549C>A | XP_011523425.1:n.584+549C>A | |
| XM_011525124.1:c.308C>A | XP_011523426.1:p.Pro103His | |
| XR_934517.1:n.680C>A | ||
| NM_000023.3:c.614C>A | NP_000014.1:p.Pro205His | |
| NM_001135697.2:c.584+549C>A | NP_001129169.1:n.584+549C>A | |
| NR_135553.1:n.670C>A | ||
| XM_011525120.2:c.776C>A | XP_011523422.2:p.Pro259His | |
| XM_011525121.2:c.759+17C>A | XP_011523423.2:n.759+17C>A | |
| XM_011525122.2:c.776C>A | XP_011523424.2:p.Pro259His | |
| XM_011525123.2:c.746+549C>A | XP_011523425.2:n.746+549C>A | |
| XM_011525124.2:c.308C>A | XP_011523426.1:p.Pro103His | |
| XM_024450873.1:c.308C>A | XP_024306641.1:p.Pro103His | |
| XR_002958056.1:n.1132C>A | ||
| NM_000023.4:c.614C>A MANE Select | NP_000014.1:p.Pro205His | |
| NM_001135697.3:c.584+549C>A | NP_001129169.1:n.584+549C>A | |
| NR_135553.2:n.650C>A |