Linked Data
ClinVar Variation Id:
3106086
ClinVar RCV Id:
RCV004399476
dbSNP Id:
rs185631771
ExAC:
1:145415390 G / T
gnomAD v2:
1-145415390-G-T
gnomAD v3:
1-146019623-C-A
gnomAD v4:
1-146019623-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146019623C>A , CM000663.2:g.146019623C>A | GRCh38 |
| NC_000001.10:g.145415390G>T , CM000663.1:g.145415390G>T | GRCh37 |
| NC_000001.9:g.144126747G>T | NCBI36 |
| NG_011568.1:g.7200G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.209G>T MANE Select | ENSP00000337014.5:p.Arg70Leu | |
| ENST00000636675.1:c.-22+75G>T | ENSP00000490072.1:n.-22+75G>T | |
| ENST00000336751.10:c.209G>T | ENSP00000337014.5:p.Arg70Leu | |
| ENST00000357836.5:c.-131G>T | ENSP00000350495.5:n.-131G>T | |
| ENST00000421822.2:c.209G>T | ENSP00000411863.2:p.Arg70Leu | |
| ENST00000475797.1:c.-21-923G>T | ENSP00000425716.1:n.-21-923G>T | |
| ENST00000497365.5:c.-22+75G>T | ENSP00000421820.1:n.-22+75G>T | |
| ENST00000634927.1:c.134+75G>T | ENSP00000489347.1:n.134+75G>T | |
| NM_001316767.1:c.-22+75G>T | NP_001303696.1:n.-22+75G>T | |
| NM_145277.4:c.-131G>T | NP_660320.3:n.-131G>T | |
| NM_202004.3:c.-22+75G>T | NP_973733.1:n.-22+75G>T | |
| NM_213652.3:c.-21-923G>T | NP_998817.1:n.-21-923G>T | |
| NM_213653.3:c.209G>T | NP_998818.1:p.Arg70Leu | |
| XM_005272932.1:c.209G>T | XP_005272989.1:p.Arg70Leu | |
| NM_001316767.2:c.-22+75G>T | NP_001303696.1:n.-22+75G>T | |
| NM_145277.5:c.-131G>T | NP_660320.3:n.-131G>T | |
| NM_202004.4:c.-22+75G>T | NP_973733.1:n.-22+75G>T | |
| NM_213652.4:c.-21-923G>T | NP_998817.1:n.-21-923G>T | |
| NM_001379352.1:c.209G>T | NP_001366281.1:p.Arg70Leu | |
| NM_213653.4:c.209G>T MANE Select | NP_998818.1:p.Arg70Leu |