Linked Data
ClinVar Variation Id:
422632
ClinVar RCV Id:
RCV000481848
dbSNP Id:
rs756715684
ExAC:
8:12946137 C / T
gnomAD v2:
8-12946137-C-T
gnomAD v4:
8-13088628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13088628C>T , CM000670.2:g.13088628C>T | GRCh38 |
| NC_000008.10:g.12946137C>T , CM000670.1:g.12946137C>T | GRCh37 |
| NC_000008.9:g.12990508C>T | NCBI36 |
| NG_015998.1:g.431293G>A | |
| NG_015998.2:g.520978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.4151G>A MANE Select | ENSP00000276297.4:p.Arg1384His | |
| ENST00000276297.8:c.4151G>A | ENSP00000276297.4:p.Arg1384His | |
| ENST00000358919.6:c.2840G>A | ENSP00000351797.2:p.Arg947His | |
| ENST00000510318.5:n.1336G>A | ||
| ENST00000512044.6:c.2942G>A | ENSP00000422595.2:p.Arg981His | |
| ENST00000520226.5:c.2618G>A | ENSP00000428028.1:p.Arg873His | |
| ENST00000521730.1:n.112G>A | ||
| NM_001164271.1:c.2618G>A | NP_001157743.1:p.Arg873His | |
| NM_001316668.1:c.2942G>A | NP_001303597.1:p.Arg981His | |
| NM_006094.4:c.2840G>A | NP_006085.2:p.Arg947His | |
| NM_182643.2:c.4151G>A | NP_872584.2:p.Arg1384His | |
| XM_005273374.1:c.4151G>A | XP_005273431.1:p.Arg1384His | |
| NM_001348081.1:c.4151G>A | NP_001335010.1:p.Arg1384His | |
| NM_001348082.1:c.2618G>A | NP_001335011.1:p.Arg873His | |
| NM_001348083.1:c.2618G>A | NP_001335012.1:p.Arg873His | |
| NM_001348084.1:c.2618G>A | NP_001335013.1:p.Arg873His | |
| NM_182643.3:c.4151G>A MANE Select | NP_872584.2:p.Arg1384His | |
| NM_001316668.2:c.2942G>A | NP_001303597.1:p.Arg981His | |
| NM_001348081.2:c.4151G>A | NP_001335010.1:p.Arg1384His | |
| NM_001348082.2:c.2618G>A | NP_001335011.1:p.Arg873His | |
| NM_001348084.2:c.2618G>A | NP_001335013.1:p.Arg873His | |
| NM_006094.5:c.2840G>A | NP_006085.2:p.Arg947His | |
| NM_001164271.2:c.2618G>A | NP_001157743.1:p.Arg873His |