Linked Data
ClinVar Variation Id:
254721
dbSNP Id:
rs138254713
ExAC:
17:48246530 G / A
gnomAD v2:
17-48246530-G-A
gnomAD v3:
17-50169169-G-A
gnomAD v4:
17-50169169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169169G>A , CM000679.2:g.50169169G>A | GRCh38 |
| NC_000017.10:g.48246530G>A , CM000679.1:g.48246530G>A | GRCh37 |
| NC_000017.9:g.45601529G>A | NCBI36 |
| NG_008889.1:g.8165G>A , LRG_203:g.8165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.597+65G>A | ENSP00000422030.2:n.597+65G>A | |
| ENST00000511303.6:n.309+597G>A | ||
| ENST00000512526.2:c.575+597G>A | ENSP00000426606.2:n.575+597G>A | |
| ENST00000682109.1:c.542G>A | ENSP00000508041.1:p.Arg181His | |
| ENST00000683226.1:n.372G>A | ||
| ENST00000683294.1:c.662G>A | ENSP00000508134.1:p.Arg221His | |
| ENST00000262018.8:c.662G>A MANE Select | ENSP00000262018.3:p.Arg221His | |
| ENST00000262018.7:c.662G>A | ENSP00000262018.3:p.Arg221His | |
| ENST00000344627.10:c.584+597G>A | ENSP00000345522.6:n.584+597G>A | |
| ENST00000502555.5:c.*321G>A | ENSP00000422817.1:n.*321G>A | |
| ENST00000504073.1:c.64+65G>A | ||
| ENST00000511303.5:c.305+597G>A | ENSP00000426104.1:n.305+597G>A | |
| ENST00000512526.1:c.419+597G>A | ||
| ENST00000513821.5:c.662G>A | ENSP00000426571.1:p.Arg221His | |
| ENST00000513942.5:n.375+597G>A | ||
| NM_000023.2:c.662G>A , LRG_203t1:c.662G>A | NP_000014.1:p.Arg221His | |
| NM_001135697.1:c.584+597G>A | NP_001129169.1:n.584+597G>A | |
| XM_011525120.1:c.662G>A | XP_011523422.1:p.Arg221His | |
| XM_011525121.1:c.597+65G>A | XP_011523423.1:n.597+65G>A | |
| XM_011525122.1:c.662G>A | XP_011523424.1:p.Arg221His | |
| XM_011525123.1:c.584+597G>A | XP_011523425.1:n.584+597G>A | |
| XM_011525124.1:c.356G>A | XP_011523426.1:p.Arg119His | |
| XR_934517.1:n.728G>A | ||
| NM_000023.3:c.662G>A | NP_000014.1:p.Arg221His | |
| NM_001135697.2:c.584+597G>A | NP_001129169.1:n.584+597G>A | |
| NR_135553.1:n.718G>A | ||
| XM_011525120.2:c.824G>A | XP_011523422.2:p.Arg275His | |
| XM_011525121.2:c.759+65G>A | XP_011523423.2:n.759+65G>A | |
| XM_011525122.2:c.824G>A | XP_011523424.2:p.Arg275His | |
| XM_011525123.2:c.746+597G>A | XP_011523425.2:n.746+597G>A | |
| XM_011525124.2:c.356G>A | XP_011523426.1:p.Arg119His | |
| XM_024450873.1:c.356G>A | XP_024306641.1:p.Arg119His | |
| XR_002958056.1:n.1180G>A | ||
| NM_000023.4:c.662G>A MANE Select | NP_000014.1:p.Arg221His | |
| NM_001135697.3:c.584+597G>A | NP_001129169.1:n.584+597G>A | |
| NR_135553.2:n.698G>A |