Linked Data
ClinVar Variation Id:
526572
ClinVar RCV Id:
RCV000631133
dbSNP Id:
rs185947256
ExAC:
1:100361872 G / A
gnomAD v2:
1-100361872-G-A
gnomAD v3:
1-99896316-G-A
gnomAD v4:
1-99896316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99896316G>A , CM000663.2:g.99896316G>A | GRCh38 |
| NC_000001.10:g.100361872G>A , CM000663.1:g.100361872G>A | GRCh37 |
| NC_000001.9:g.100134460G>A | NCBI36 |
| NG_012865.1:g.51233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.3290G>A MANE Select | ENSP00000355106.3:p.Arg1097His | |
| ENST00000637337.1:n.3501G>A | ||
| ENST00000294724.8:c.3290G>A | ENSP00000294724.4:p.Arg1097His | |
| ENST00000361302.7:c.3242G>A | ENSP00000354971.3:p.Arg1081His | |
| ENST00000361522.4:c.3239G>A | ENSP00000354635.4:p.Arg1080His | |
| ENST00000361915.7:c.3290G>A | ENSP00000355106.3:p.Arg1097His | |
| ENST00000370161.6:c.3242G>A | ENSP00000359180.2:p.Arg1081His | |
| ENST00000370163.7:c.3290G>A | ENSP00000359182.3:p.Arg1097His | |
| ENST00000370165.7:c.3290G>A | ENSP00000359184.3:p.Arg1097His | |
| NM_000028.2:c.3290G>A | NP_000019.2:p.Arg1097His | |
| NM_000642.2:c.3290G>A | NP_000633.2:p.Arg1097His | |
| NM_000643.2:c.3290G>A | NP_000634.2:p.Arg1097His | |
| NM_000644.2:c.3290G>A | NP_000635.2:p.Arg1097His | |
| NM_000645.2:c.3239G>A | NP_000636.2:p.Arg1080His | |
| NM_000646.2:c.3242G>A | NP_000637.2:p.Arg1081His | |
| XM_005270557.1:c.3290G>A | XP_005270614.1:p.Arg1097His | |
| XM_005270557.2:c.3290G>A | XP_005270614.1:p.Arg1097His | |
| XM_017000501.2:c.1550G>A | XP_016855990.1:p.Arg517His | |
| NM_000642.3:c.3290G>A MANE Select | NP_000633.2:p.Arg1097His |