Linked Data
ClinVar Variation Id:
2616850
ClinVar RCV Id:
RCV004357155
dbSNP Id:
rs184034246
ExAC:
4:81207708 C / T
gnomAD v2:
4-81207708-C-T
gnomAD v3:
4-80286554-C-T
gnomAD v4:
4-80286554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286554C>T , CM000666.2:g.80286554C>T | GRCh38 |
| NC_000004.11:g.81207708C>T , CM000666.1:g.81207708C>T | GRCh37 |
| NC_000004.10:g.81426732C>T | NCBI36 |
| NG_029501.1:g.24967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.689C>T MANE Select | ENSP00000311697.7:p.Thr230Met | |
| ENST00000312465.11:c.689C>T | ENSP00000311697.7:p.Thr230Met | |
| ENST00000456523.3:c.*213C>T | ENSP00000398353.3:n.*213C>T | |
| ENST00000503413.1:n.638C>T | ||
| ENST00000507780.1:c.342+11542C>T | ENSP00000423903.1:n.342+11542C>T | |
| NM_001291812.1:c.260C>T | NP_001278741.1:p.Thr87Met | |
| NM_004464.3:c.689C>T | NP_004455.2:p.Thr230Met | |
| NM_033143.2:c.*213C>T | NP_149134.1:n.*213C>T | |
| NM_001291812.2:c.260C>T | NP_001278741.1:p.Thr87Met | |
| NM_004464.4:c.689C>T MANE Select | NP_004455.2:p.Thr230Met |