Linked Data
ClinVar Variation Id:
465900
dbSNP Id:
rs748825632
ExAC:
6:7583289 C / T
gnomAD v2:
6-7583289-C-T
gnomAD v3:
6-7583056-C-T
gnomAD v4:
6-7583056-C-T
COSMIC:
COSM160590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583056C>T , CM000668.2:g.7583056C>T | GRCh38 |
| NC_000006.11:g.7583289C>T , CM000668.1:g.7583289C>T | GRCh37 |
| NC_000006.10:g.7528288C>T | NCBI36 |
| NG_008803.1:g.46420C>T , LRG_423:g.46420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4465C>T | ENSP00000518230.1:p.Arg1489Cys | |
| ENST00000379802.8:c.5794C>T MANE Select | ENSP00000369129.3:p.Arg1932Cys | |
| ENST00000379802.7:c.5794C>T | ENSP00000369129.3:p.Arg1932Cys | |
| ENST00000418664.2:c.3997C>T | ENSP00000396591.2:p.Arg1333Cys | |
| NM_001008844.1:c.3997C>T | NP_001008844.1:p.Arg1333Cys | |
| NM_004415.2:c.5794C>T , LRG_423t1:c.5794C>T | NP_004406.2:p.Arg1932Cys | |
| XM_011514323.1:c.4465C>T | XP_011512625.1:p.Arg1489Cys | |
| NM_001008844.2:c.3997C>T | NP_001008844.1:p.Arg1333Cys | |
| NM_001319034.1:c.4465C>T | NP_001305963.1:p.Arg1489Cys | |
| NM_004415.3:c.5794C>T | NP_004406.2:p.Arg1932Cys | |
| NM_004415.4:c.5794C>T MANE Select | NP_004406.2:p.Arg1932Cys | |
| NM_001008844.3:c.3997C>T | NP_001008844.1:p.Arg1333Cys | |
| NM_001319034.2:c.4465C>T | NP_001305963.1:p.Arg1489Cys |