Linked Data
ClinVar Variation Id:
2482762
ClinVar RCV Id:
RCV003211657
dbSNP Id:
rs749050515
gnomAD v2:
20-10393719-C-G
gnomAD v3:
20-10413071-C-G
gnomAD v4:
20-10413071-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413071C>G , CM000682.2:g.10413071C>G | GRCh38 |
| NC_000020.10:g.10393719C>G , CM000682.1:g.10393719C>G | GRCh37 |
| NC_000020.9:g.10341719C>G | NCBI36 |
| NG_009109.1:g.26148G>C | |
| NG_009109.2:g.26148G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.444G>C | ENSP00000498849.1:p.Gln148His | |
| ENST00000652676.1:n.459-371G>C | ||
| ENST00000347364.7:c.444G>C MANE Select | ENSP00000246062.4:p.Gln148His | |
| ENST00000399054.6:c.444G>C | ENSP00000382008.2:p.Gln148His | |
| NM_018848.3:c.444G>C | NP_061336.1:p.Gln148His | |
| NM_170784.2:c.444G>C | NP_740754.1:p.Gln148His | |
| NR_072977.1:n.364-4268G>C | ||
| NR_072977.2:n.347-4268G>C | ||
| NM_170784.3:c.444G>C MANE Select | NP_740754.1:p.Gln148His |