Linked Data
ClinVar Variation Id:
1711
dbSNP Id:
rs121917904
ExAC:
10:50690855 G / A
gnomAD v2:
10-50690855-G-A
gnomAD v3:
10-49482809-G-A
gnomAD v4:
10-49482809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482809G>A , CM000672.2:g.49482809G>A | GRCh38 |
| NC_000010.10:g.50690855G>A , CM000672.1:g.50690855G>A | GRCh37 |
| NC_000010.9:g.50360861G>A | NCBI36 |
| NG_009442.1:g.61293C>T , LRG_465:g.61293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2047C>T MANE Select | ENSP00000348089.5:p.Arg683Ter | |
| ENST00000681632.1:n.2125C>T | ||
| ENST00000681659.1:c.1888C>T | ENSP00000505631.1:p.Arg630Ter | |
| ENST00000355832.9:c.2047C>T | ENSP00000348089.5:p.Arg683Ter | |
| ENST00000623073.3:c.*439C>T | ENSP00000485650.1:n.*439C>T | |
| ENST00000623115.3:c.157C>T | ENSP00000485321.1:p.Arg53Ter | |
| NM_000124.3:c.2047C>T | NP_000115.1:p.Arg683Ter | |
| NM_001346440.1:c.2047C>T | NP_001333369.1:p.Arg683Ter | |
| NM_000124.4:c.2047C>T MANE Select | NP_000115.1:p.Arg683Ter | |
| NM_001346440.2:c.2047C>T | NP_001333369.1:p.Arg683Ter |