Linked Data
ClinVar Variation Id:
163004
dbSNP Id:
rs45607943
ExAC:
11:19204205 C / T
gnomAD v2:
11-19204205-C-T
gnomAD v3:
11-19182658-C-T
gnomAD v4:
11-19182658-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19182658C>T , CM000673.2:g.19182658C>T | GRCh38 |
| NC_000011.9:g.19204205C>T , CM000673.1:g.19204205C>T | GRCh37 |
| NC_000011.8:g.19160781C>T | NCBI36 |
| NG_011932.2:g.32916G>A , LRG_440:g.32916G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.*12G>A MANE Select | ENSP00000265968.3:n.*12G>A | |
| ENST00000533783.2:c.*12G>A | ENSP00000431813.1:n.*12G>A | |
| ENST00000647990.1:c.464G>A | ENSP00000496798.1:p.Arg155His | |
| ENST00000648719.1:c.*115G>A | ENSP00000497633.1:n.*115G>A | |
| ENST00000649235.1:c.*12G>A | ENSP00000497388.1:n.*12G>A | |
| ENST00000649842.1:c.428G>A | ENSP00000497531.1:p.Arg143His | |
| ENST00000265968.7:c.*12G>A | ENSP00000265968.3:n.*12G>A | |
| ENST00000533783.1:c.*12G>A | ENSP00000431813.1:n.*12G>A | |
| NM_003476.4:c.*12G>A | NP_003467.1:n.*12G>A | |
| XM_024448698.1:c.428G>A | XP_024304466.1:p.Arg143His | |
| NM_001369404.1:c.428G>A | NP_001356333.1:p.Arg143His | |
| NM_003476.5:c.*12G>A MANE Select | NP_003467.1:n.*12G>A |