Linked Data
ClinVar Variation Id:
2035694
dbSNP Id:
rs782783739
ExAC:
19:42489303 G / A
gnomAD v2:
19-42489303-G-A
gnomAD v3:
19-41985151-G-A
gnomAD v4:
19-41985151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41985151G>A , CM000681.2:g.41985151G>A | GRCh38 |
| NC_000019.9:g.42489303G>A , CM000681.1:g.42489303G>A | GRCh37 |
| NC_000019.8:g.47181143G>A | NCBI36 |
| NG_008015.1:g.14080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.799C>T | ENSP00000444688.1:p.Arg267Cys | |
| ENST00000644613.1:c.760C>T | ENSP00000494711.1:p.Arg254Cys | |
| ENST00000648268.1:c.760C>T MANE Select | ENSP00000498113.1:p.Arg254Cys | |
| ENST00000302102.9:c.760C>T | ENSP00000302397.5:p.Arg254Cys | |
| ENST00000441343.5:c.760C>T | ENSP00000411503.1:p.Arg254Cys | |
| ENST00000473086.3:c.670C>T | ENSP00000469129.2:p.Arg224Cys | |
| ENST00000485672.2:n.73C>T | ||
| ENST00000543770.5:c.793C>T | ENSP00000437577.1:p.Arg265Cys | |
| ENST00000545399.5:c.799C>T | ENSP00000444688.1:p.Arg267Cys | |
| ENST00000602133.5:c.670C>T | ENSP00000471581.1:p.Arg224Cys | |
| NM_001256213.1:c.793C>T | NP_001243142.1:p.Arg265Cys | |
| NM_001256214.1:c.799C>T | NP_001243143.1:p.Arg267Cys | |
| NM_152296.4:c.760C>T | NP_689509.1:p.Arg254Cys | |
| XM_011526991.1:c.670C>T | XP_011525293.1:p.Arg224Cys | |
| NM_152296.5:c.760C>T MANE Select | NP_689509.1:p.Arg254Cys | |
| NM_001256214.2:c.799C>T | NP_001243143.1:p.Arg267Cys | |
| NM_001256213.2:c.793C>T | NP_001243142.1:p.Arg265Cys |