Linked Data
ClinVar Variation Id:
1676825
ClinVar RCV Id:
RCV002222321
dbSNP Id:
rs2096283329
gnomAD v4:
7-44153455-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153455C>A , CM000669.2:g.44153455C>A | GRCh38 |
| NC_000007.13:g.44193054C>A , CM000669.1:g.44193054C>A | GRCh37 |
| NC_000007.12:g.44159579C>A | NCBI36 |
| NG_008847.1:g.40969G>T | |
| NG_008847.2:g.49716G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*52G>T | ENSP00000379142.4:n.*52G>T | |
| ENST00000616242.5:c.54G>T | ENSP00000482149.2:p.Gln18His | |
| ENST00000682635.1:n.540G>T | ||
| ENST00000345378.7:c.57G>T | ENSP00000223366.2:p.Gln19His | |
| ENST00000403799.8:c.54G>T MANE Select | ENSP00000384247.3:p.Gln18His | |
| ENST00000671824.1:c.54G>T | ENSP00000500264.1:p.Gln18His | |
| ENST00000673284.1:c.54G>T | ENSP00000499852.1:p.Gln18His | |
| ENST00000345378.6:c.57G>T | ENSP00000223366.2:p.Gln19His | |
| ENST00000395796.7:c.51G>T | ENSP00000379142.3:p.Gln17His | |
| ENST00000403799.7:c.54G>T | ENSP00000384247.3:p.Gln18His | |
| ENST00000437084.1:c.54G>T | ENSP00000402840.1:p.Gln18His | |
| ENST00000476008.1:n.489G>T | ||
| ENST00000616242.4:c.51G>T | ENSP00000482149.1:p.Gln17His | |
| NM_000162.3:c.54G>T | NP_000153.1:p.Gln18His | |
| NM_033507.1:c.57G>T | NP_277042.1:p.Gln19His | |
| NM_033508.1:c.51G>T | NP_277043.1:p.Gln17His | |
| NM_000162.4:c.54G>T | NP_000153.1:p.Gln18His | |
| NM_001354800.1:c.54G>T | NP_001341729.1:p.Gln18His | |
| NM_033507.2:c.57G>T | NP_277042.1:p.Gln19His | |
| NM_033508.2:c.51G>T | NP_277043.1:p.Gln17His | |
| NM_000162.5:c.54G>T MANE Select | NP_000153.1:p.Gln18His | |
| NM_033507.3:c.57G>T | NP_277042.1:p.Gln19His | |
| NM_033508.3:c.51G>T | NP_277043.1:p.Gln17His |