Linked Data
ClinVar Variation Id:
2317
ClinVar RCV Id:
RCV000002407
dbSNP Id:
rs28940289
ExAC:
19:44015607 G / A
gnomAD v2:
19-44015607-G-A
gnomAD v3:
19-43511455-G-A
gnomAD v4:
19-43511455-G-A
ERepo:
CA115479/MONDO:0011229/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43511455G>A , CM000681.2:g.43511455G>A | GRCh38 |
| NC_000019.9:g.44015607G>A , CM000681.1:g.44015607G>A | GRCh37 |
| NC_000019.8:g.48707447G>A | NCBI36 |
| NG_008141.1:g.20790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.487C>T MANE Select | ENSP00000292147.1:p.Arg163Trp | |
| ENST00000292147.6:c.487C>T | ENSP00000292147.1:p.Arg163Trp | |
| ENST00000594342.5:c.*50C>T | ENSP00000469652.1:n.*50C>T | |
| ENST00000598330.1:c.*50C>T | ENSP00000469219.1:n.*50C>T | |
| ENST00000600651.5:c.487C>T | ENSP00000469037.1:p.Arg163Trp | |
| NM_014297.3:c.487C>T | NP_055112.2:p.Arg163Trp | |
| XM_005258687.2:c.406C>T | XP_005258744.1:p.Arg136Trp | |
| XM_005258688.2:c.118C>T | XP_005258745.1:p.Arg40Trp | |
| XM_011526685.1:c.227-2591C>T | XP_011524987.1:n.227-2591C>T | |
| NM_001320867.1:c.454C>T | NP_001307796.1:p.Arg152Trp | |
| NM_001320868.1:c.118C>T | NP_001307797.1:p.Arg40Trp | |
| NM_001320869.1:c.193C>T | NP_001307798.1:p.Arg65Trp | |
| NM_014297.4:c.487C>T | NP_055112.2:p.Arg163Trp | |
| XM_005258687.4:c.406C>T | XP_005258744.1:p.Arg136Trp | |
| NM_014297.5:c.487C>T MANE Select | NP_055112.2:p.Arg163Trp | |
| NM_001320867.2:c.454C>T | NP_001307796.1:p.Arg152Trp | |
| NM_001320868.2:c.118C>T | NP_001307797.1:p.Arg40Trp | |
| NM_001320869.2:c.193C>T | NP_001307798.1:p.Arg65Trp |