Linked Data
ClinVar Variation Id:
2780822
ClinVar RCV Id:
RCV003659636
dbSNP Id:
rs1233642078
gnomAD v2:
19-6686267-C-G
gnomAD v4:
19-6686256-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686256C>G , CM000681.2:g.6686256C>G | GRCh38 |
| NC_000019.9:g.6686267C>G , CM000681.1:g.6686267C>G | GRCh37 |
| NC_000019.8:g.6637267C>G | NCBI36 |
| NG_009557.1:g.39396G>C , LRG_27:g.39396G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2026G>C | ||
| ENST00000695652.1:c.3555G>C | ENSP00000512083.1:p.Gln1185His | |
| ENST00000695653.1:c.1587G>C | ENSP00000512084.1:p.Gln529His | |
| ENST00000695654.1:c.2703G>C | ENSP00000512085.1:p.Gln901His | |
| ENST00000695655.1:c.2619G>C | ENSP00000512086.1:n.2619G>C | |
| ENST00000695692.1:n.3042G>C | ||
| ENST00000245907.11:c.3678G>C MANE Select | ENSP00000245907.4:p.Gln1226His | |
| ENST00000245907.10:c.3678G>C | ENSP00000245907.4:p.Gln1226His | |
| ENST00000596238.1:n.121G>C | ||
| ENST00000601008.1:c.241+490G>C | ENSP00000471384.1:n.241+490G>C | |
| NM_000064.3:c.3678G>C | NP_000055.2:p.Gln1226His | |
| NM_000064.4:c.3678G>C MANE Select | NP_000055.2:p.Gln1226His |