Linked Data
ClinVar Variation Id:
419610
ClinVar RCV Id:
RCV000486185
dbSNP Id:
rs150239404
ExAC:
10:102013179 G / A
gnomAD v2:
10-102013179-G-A
gnomAD v3:
10-100253422-G-A
gnomAD v4:
10-100253422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100253422G>A , CM000672.2:g.100253422G>A | GRCh38 |
| NC_000010.10:g.102013179G>A , CM000672.1:g.102013179G>A | GRCh37 |
| NC_000010.9:g.102003169G>A | NCBI36 |
| NG_041811.1:g.19260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354105.10:c.622C>T MANE Select | ENSP00000326411.6:p.Arg208Ter | |
| ENST00000354105.8:c.622C>T | ENSP00000326411.6:p.Arg208Ter | |
| ENST00000466955.5:n.179C>T | ||
| ENST00000468709.5:n.478C>T | ||
| ENST00000473842.1:n.594C>T | ||
| ENST00000478047.1:n.1198C>T | ||
| ENST00000482452.5:n.310C>T | ||
| ENST00000496796.5:n.386C>T | ||
| NM_001303404.1:c.622C>T | NP_001290333.1:p.Arg208Ter | |
| NM_001303405.1:c.211C>T | NP_001290334.1:p.Arg71Ter | |
| NM_001303406.1:c.211C>T | NP_001290335.1:p.Arg71Ter | |
| NM_001303407.1:c.-114C>T | NP_001290336.1:n.-114C>T | |
| NM_018294.5:c.622C>T | NP_060764.3:p.Arg208Ter | |
| NM_018294.6:c.622C>T MANE Select | NP_060764.3:p.Arg208Ter | |
| NM_001303404.2:c.622C>T | NP_001290333.1:p.Arg208Ter | |
| NM_001303405.2:c.211C>T | NP_001290334.1:p.Arg71Ter | |
| NM_001303406.2:c.211C>T | NP_001290335.1:p.Arg71Ter | |
| NM_001303407.2:c.-114C>T | NP_001290336.1:n.-114C>T |