Linked Data
ClinVar Variation Id:
60543
dbSNP Id:
rs397509425
ExAC:
3:49760037 G / A
gnomAD v2:
3-49760037-G-A
gnomAD v3:
3-49722604-G-A
gnomAD v4:
3-49722604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49722604G>A , CM000665.2:g.49722604G>A | GRCh38 |
| NC_000003.11:g.49760037G>A , CM000665.1:g.49760037G>A | GRCh37 |
| NC_000003.10:g.49735041G>A | NCBI36 |
| NG_011603.1:g.38048G>A | |
| NG_033731.1:g.6371C>T | |
| NG_033731.2:g.6371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.553C>T MANE Select | ENSP00000311130.6:p.Arg185Cys | |
| ENST00000481959.2:n.1126C>T | ||
| ENST00000495627.2:c.661C>T | ENSP00000503768.1:p.Arg221Cys | |
| ENST00000677393.1:c.553C>T | ENSP00000503880.1:p.Arg185Cys | |
| ENST00000678010.1:c.402+368C>T | ENSP00000503176.1:n.402+368C>T | |
| ENST00000678208.1:n.987C>T | ||
| ENST00000678853.1:c.403-246C>T | ENSP00000504692.1:n.403-246C>T | |
| ENST00000308375.10:c.553C>T | ENSP00000309092.6:p.Arg185Cys | |
| ENST00000308388.6:c.553C>T | ENSP00000311130.6:p.Arg185Cys | |
| ENST00000480687.5:c.553C>T | ENSP00000418565.1:p.Arg185Cys | |
| NM_013334.3:c.553C>T | NP_037466.2:p.Arg185Cys | |
| NM_021971.2:c.553C>T | NP_068806.1:p.Arg185Cys | |
| NM_021971.4:c.553C>T MANE Select | NP_068806.2:p.Arg185Cys | |
| NM_013334.4:c.553C>T | NP_037466.3:p.Arg185Cys |