Linked Data
ClinVar Variation Id:
506219
dbSNP Id:
rs574785830
ExAC:
2:73717923 A / G
gnomAD v2:
2-73717923-A-G
gnomAD v3:
2-73490796-A-G
gnomAD v4:
2-73490796-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490796A>G , CM000664.2:g.73490796A>G | GRCh38 |
| NC_000002.11:g.73717923A>G , CM000664.1:g.73717923A>G | GRCh37 |
| NC_000002.10:g.73571431A>G | NCBI36 |
| NG_011690.1:g.110044A>G , LRG_741:g.110044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.8456A>G | ENSP00000507671.1:p.His2819Arg | |
| ENST00000682801.1:c.8456A>G | ENSP00000507862.1:p.His2819Arg | |
| ENST00000682859.1:c.8456A>G | ENSP00000508222.1:p.His2819Arg | |
| ENST00000683791.1:c.1848A>G | ||
| ENST00000684460.1:c.5908A>G | ||
| ENST00000684548.1:c.8456A>G | ENSP00000507421.1:p.His2819Arg | |
| ENST00000684590.1:c.2903A>G | ENSP00000507376.1:p.His968Arg | |
| ENST00000684656.1:c.5908A>G | ||
| ENST00000613296.6:c.8837A>G MANE Select | ENSP00000482968.1:p.His2946Arg | |
| ENST00000651434.1:c.896-28979A>G | ||
| ENST00000423048.5:c.3030+638A>G | ENSP00000399833.1:n.3030+638A>G | |
| ENST00000484298.5:c.8711A>G | ENSP00000478155.1:p.His2904Arg | |
| ENST00000613296.4:c.8837A>G | ENSP00000482968.1:p.His2946Arg | |
| ENST00000614410.4:c.8837A>G | ENSP00000479094.1:p.His2946Arg | |
| ENST00000620466.4:n.2640A>G | ||
| NM_015120.4:c.8840A>G , LRG_741t1:c.8840A>G | NP_055935.4:p.His2947Arg | |
| NM_001378454.1:c.8837A>G MANE Select | NP_001365383.1:p.His2946Arg |