Linked Data
ClinVar Variation Id:
3001428
ClinVar RCV Id:
RCV003852571
dbSNP Id:
rs753876258
ExAC:
19:6697482 G / T
gnomAD v2:
19-6697482-G-T
gnomAD v3:
19-6697471-G-T
gnomAD v4:
19-6697471-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697471G>T , CM000681.2:g.6697471G>T | GRCh38 |
| NC_000019.9:g.6697482G>T , CM000681.1:g.6697482G>T | GRCh37 |
| NC_000019.8:g.6648482G>T | NCBI36 |
| NG_009557.1:g.28181C>A , LRG_27:g.28181C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1017C>A | ||
| ENST00000695652.1:c.2546C>A | ENSP00000512083.1:p.Pro849His | |
| ENST00000695653.1:c.578C>A | ENSP00000512084.1:p.Pro193His | |
| ENST00000695654.1:c.1793C>A | ENSP00000512085.1:p.Pro598His | |
| ENST00000695655.1:c.1610C>A | ENSP00000512086.1:n.1610C>A | |
| ENST00000695692.1:n.2033C>A | ||
| ENST00000245907.11:c.2669C>A MANE Select | ENSP00000245907.4:p.Pro890His | |
| ENST00000245907.10:c.2669C>A | ENSP00000245907.4:p.Pro890His | |
| ENST00000594005.1:n.245C>A | ||
| NM_000064.3:c.2669C>A | NP_000055.2:p.Pro890His | |
| NM_000064.4:c.2669C>A MANE Select | NP_000055.2:p.Pro890His |