Linked Data
ClinVar Variation Id:
988246
dbSNP Id:
rs1443451793
gnomAD v2:
19-6697509-C-T
gnomAD v3:
19-6697498-C-T
gnomAD v4:
19-6697498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697498C>T , CM000681.2:g.6697498C>T | GRCh38 |
| NC_000019.9:g.6697509C>T , CM000681.1:g.6697509C>T | GRCh37 |
| NC_000019.8:g.6648509C>T | NCBI36 |
| NG_009557.1:g.28154G>A , LRG_27:g.28154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.990G>A | ||
| ENST00000695652.1:c.2519G>A | ENSP00000512083.1:p.Arg840His | |
| ENST00000695653.1:c.551G>A | ENSP00000512084.1:p.Arg184His | |
| ENST00000695654.1:c.1766G>A | ENSP00000512085.1:p.Arg589His | |
| ENST00000695655.1:c.1583G>A | ENSP00000512086.1:n.1583G>A | |
| ENST00000695692.1:n.2006G>A | ||
| ENST00000245907.11:c.2642G>A MANE Select | ENSP00000245907.4:p.Arg881His | |
| ENST00000245907.10:c.2642G>A | ENSP00000245907.4:p.Arg881His | |
| ENST00000594005.1:n.218G>A | ||
| NM_000064.3:c.2642G>A | NP_000055.2:p.Arg881His | |
| NM_000064.4:c.2642G>A MANE Select | NP_000055.2:p.Arg881His |