Linked Data
dbSNP Id:
rs781828380
ExAC:
1:145415432 G / A
gnomAD v2:
1-145415432-G-A
gnomAD v4:
1-146019581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146019581C>T , CM000663.2:g.146019581C>T | GRCh38 |
| NC_000001.10:g.145415432G>A , CM000663.1:g.145415432G>A | GRCh37 |
| NC_000001.9:g.144126789G>A | NCBI36 |
| NG_011568.1:g.7242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.251G>A MANE Select | ENSP00000337014.5:p.Arg84His | |
| ENST00000636675.1:c.-22+117G>A | ENSP00000490072.1:n.-22+117G>A | |
| ENST00000336751.10:c.251G>A | ENSP00000337014.5:p.Arg84His | |
| ENST00000357836.5:c.-89G>A | ENSP00000350495.5:n.-89G>A | |
| ENST00000421822.2:c.251G>A | ENSP00000411863.2:p.Arg84His | |
| ENST00000475797.1:c.-21-881G>A | ENSP00000425716.1:n.-21-881G>A | |
| ENST00000497365.5:c.-22+117G>A | ENSP00000421820.1:n.-22+117G>A | |
| ENST00000634927.1:c.134+117G>A | ENSP00000489347.1:n.134+117G>A | |
| NM_001316767.1:c.-22+117G>A | NP_001303696.1:n.-22+117G>A | |
| NM_145277.4:c.-89G>A | NP_660320.3:n.-89G>A | |
| NM_202004.3:c.-22+117G>A | NP_973733.1:n.-22+117G>A | |
| NM_213652.3:c.-21-881G>A | NP_998817.1:n.-21-881G>A | |
| NM_213653.3:c.251G>A | NP_998818.1:p.Arg84His | |
| XM_005272932.1:c.251G>A | XP_005272989.1:p.Arg84His | |
| NM_001316767.2:c.-22+117G>A | NP_001303696.1:n.-22+117G>A | |
| NM_145277.5:c.-89G>A | NP_660320.3:n.-89G>A | |
| NM_202004.4:c.-22+117G>A | NP_973733.1:n.-22+117G>A | |
| NM_213652.4:c.-21-881G>A | NP_998817.1:n.-21-881G>A | |
| NM_001379352.1:c.251G>A | NP_001366281.1:p.Arg84His | |
| NM_213653.4:c.251G>A MANE Select | NP_998818.1:p.Arg84His |