Linked Data
ClinVar Variation Id:
2375939
ClinVar RCV Id:
RCV004213172
dbSNP Id:
rs191286964
ExAC:
4:184210648 C / T
gnomAD v2:
4-184210648-C-T
gnomAD v3:
4-183289495-C-T
gnomAD v4:
4-183289495-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289495C>T , CM000666.2:g.183289495C>T | GRCh38 |
| NC_000004.11:g.184210648C>T , CM000666.1:g.184210648C>T | GRCh37 |
| NC_000004.10:g.184447642C>T | NCBI36 |
| NG_051586.1:g.195861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3244C>T MANE Select | ENSP00000384222.3:p.Arg1082Cys | |
| ENST00000403733.7:c.3244C>T | ENSP00000384222.3:p.Arg1082Cys | |
| ENST00000427431.5:c.*2636C>T | ENSP00000393342.1:n.*2636C>T | |
| ENST00000438543.5:c.*1040C>T | ENSP00000413521.1:n.*1040C>T | |
| ENST00000448232.6:c.3316C>T | ENSP00000398577.2:p.Arg1106Cys | |
| ENST00000504005.5:c.2290C>T | ENSP00000427569.1:p.Arg764Cys | |
| ENST00000508747.1:c.628C>T | ENSP00000420835.1:p.Arg210Cys | |
| ENST00000513834.5:c.3097C>T | ENSP00000425054.1:p.Arg1033Cys | |
| NM_024949.5:c.3244C>T | NP_079225.5:p.Arg1082Cys | |
| XM_011532269.1:c.3316C>T | XP_011530571.1:p.Arg1106Cys | |
| XM_011532269.3:c.3316C>T | XP_011530571.1:p.Arg1106Cys | |
| XM_024454225.1:c.3022C>T | XP_024309993.1:p.Arg1008Cys | |
| NM_024949.6:c.3244C>T MANE Select | NP_079225.5:p.Arg1082Cys |