Linked Data
dbSNP Id:
rs369362522
ExAC:
17:47486516 C / T
gnomAD v2:
17-47486516-C-T
gnomAD v3:
17-49409154-C-T
gnomAD v4:
17-49409154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49409154C>T , CM000679.2:g.49409154C>T | GRCh38 |
| NC_000017.10:g.47486516C>T , CM000679.1:g.47486516C>T | GRCh37 |
| NC_000017.9:g.44841515C>T | NCBI36 |
| NG_023046.1:g.10727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696365.1:c.398G>A | ENSP00000512581.1:p.Arg133His | |
| ENST00000300408.8:c.398G>A MANE Select | ENSP00000300408.3:p.Arg133His | |
| ENST00000419140.7:c.398G>A | ENSP00000393320.3:p.Arg133His | |
| ENST00000434917.3:n.489G>A | ||
| ENST00000446735.6:c.236G>A | ENSP00000407828.2:p.Arg79His | |
| ENST00000504124.6:c.398G>A | ENSP00000426433.3:p.Arg133His | |
| ENST00000508009.6:n.489G>A | ||
| ENST00000511832.6:c.398G>A | ENSP00000425035.2:p.Arg133His | |
| ENST00000512041.7:c.398G>A | ENSP00000422182.3:p.Arg133His | |
| ENST00000614445.5:c.398G>A | ENSP00000479488.1:p.Arg133His | |
| ENST00000617874.5:c.398G>A | ENSP00000484113.1:p.Arg133His | |
| ENST00000300408.7:c.398G>A | ENSP00000300408.3:p.Arg133His | |
| ENST00000393345.8:n.449G>A | ||
| ENST00000419140.6:c.398G>A | ENSP00000393320.2:p.Arg133His | |
| ENST00000446735.5:c.398G>A | ENSP00000407828.1:p.Arg133His | |
| ENST00000504124.5:c.398G>A | ENSP00000426433.2:p.Arg133His | |
| ENST00000506273.1:n.353G>A | ||
| ENST00000508009.5:n.225G>A | ||
| ENST00000511832.5:c.398G>A | ENSP00000425035.1:p.Arg133His | |
| ENST00000512041.6:c.398G>A | ENSP00000422182.2:p.Arg133His | |
| ENST00000614445.4:c.398G>A | ENSP00000479488.1:p.Arg133His | |
| ENST00000617874.4:c.398G>A | ENSP00000484113.1:p.Arg133His | |
| NM_001281496.1:c.398G>A | NP_001268425.1:p.Arg133His | |
| NM_001281497.1:c.398G>A | NP_001268426.1:p.Arg133His | |
| NM_001281715.1:c.398G>A | NP_001268644.1:p.Arg133His | |
| NM_002634.3:c.398G>A | NP_002625.1:p.Arg133His | |
| XM_017024763.1:c.398G>A | XP_016880252.1:p.Arg133His | |
| NM_002634.4:c.398G>A MANE Select | NP_002625.1:p.Arg133His | |
| NM_001281496.2:c.398G>A | NP_001268425.1:p.Arg133His | |
| NM_001281497.2:c.398G>A | NP_001268426.1:p.Arg133His | |
| NM_001281715.2:c.398G>A | NP_001268644.1:p.Arg133His |