Linked Data
ClinVar Variation Id:
44874
ClinVar RCV Id:
RCV000038008
RCV000148478
RCV000641847
RCV000622195
RCV000777603
RCV001159872
RCV001084249
RCV001159871
RCV001159873
dbSNP Id:
rs150339369
ExAC:
6:7575014 C / T
gnomAD v2:
6-7575014-C-T
gnomAD v3:
6-7574781-C-T
gnomAD v4:
6-7574781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7574781C>T , CM000668.2:g.7574781C>T | GRCh38 |
| NC_000006.11:g.7575014C>T , CM000668.1:g.7575014C>T | GRCh37 |
| NC_000006.10:g.7520013C>T | NCBI36 |
| NG_008803.1:g.38145C>T , LRG_423:g.38145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.2422C>T | ENSP00000518230.1:p.Arg808Cys | |
| ENST00000684395.1:n.1063C>T | ||
| ENST00000379802.8:c.2422C>T MANE Select | ENSP00000369129.3:p.Arg808Cys | |
| ENST00000379802.7:c.2422C>T | ENSP00000369129.3:p.Arg808Cys | |
| ENST00000418664.2:c.2422C>T | ENSP00000396591.2:p.Arg808Cys | |
| NM_001008844.1:c.2422C>T | NP_001008844.1:p.Arg808Cys | |
| NM_004415.2:c.2422C>T , LRG_423t1:c.2422C>T | NP_004406.2:p.Arg808Cys | |
| XM_011514323.1:c.2422C>T | XP_011512625.1:p.Arg808Cys | |
| NM_001008844.2:c.2422C>T | NP_001008844.1:p.Arg808Cys | |
| NM_001319034.1:c.2422C>T | NP_001305963.1:p.Arg808Cys | |
| NM_004415.3:c.2422C>T | NP_004406.2:p.Arg808Cys | |
| NM_004415.4:c.2422C>T MANE Select | NP_004406.2:p.Arg808Cys | |
| NM_001008844.3:c.2422C>T | NP_001008844.1:p.Arg808Cys | |
| NM_001319034.2:c.2422C>T | NP_001305963.1:p.Arg808Cys |