Linked Data
ClinVar Variation Id:
1995332
ClinVar RCV Id:
RCV002819275
dbSNP Id:
rs1413094138
gnomAD v2:
7-44193065-G-A
gnomAD v3:
7-44153466-G-A
gnomAD v4:
7-44153466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153466G>A , CM000669.2:g.44153466G>A | GRCh38 |
| NC_000007.13:g.44193065G>A , CM000669.1:g.44193065G>A | GRCh37 |
| NC_000007.12:g.44159590G>A | NCBI36 |
| NG_008847.1:g.40958C>T | |
| NG_008847.2:g.49705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*44-3C>T | ENSP00000379142.4:n.*44-3C>T | |
| ENST00000616242.5:c.46-3C>T | ENSP00000482149.2:n.46-3C>T | |
| ENST00000682635.1:n.532-3C>T | ||
| ENST00000345378.7:c.49-3C>T | ENSP00000223366.2:n.49-3C>T | |
| ENST00000403799.8:c.46-3C>T MANE Select | ENSP00000384247.3:n.46-3C>T | |
| ENST00000671824.1:c.46-3C>T | ENSP00000500264.1:n.46-3C>T | |
| ENST00000673284.1:c.46-3C>T | ENSP00000499852.1:n.46-3C>T | |
| ENST00000345378.6:c.49-3C>T | ENSP00000223366.2:n.49-3C>T | |
| ENST00000395796.7:c.43-3C>T | ENSP00000379142.3:n.43-3C>T | |
| ENST00000403799.7:c.46-3C>T | ENSP00000384247.3:n.46-3C>T | |
| ENST00000437084.1:c.46-3C>T | ENSP00000402840.1:n.46-3C>T | |
| ENST00000476008.1:n.481-3C>T | ||
| ENST00000616242.4:c.43-3C>T | ENSP00000482149.1:n.43-3C>T | |
| NM_000162.3:c.46-3C>T | NP_000153.1:n.46-3C>T | |
| NM_033507.1:c.49-3C>T | NP_277042.1:n.49-3C>T | |
| NM_033508.1:c.43-3C>T | NP_277043.1:n.43-3C>T | |
| NM_000162.4:c.46-3C>T | NP_000153.1:n.46-3C>T | |
| NM_001354800.1:c.46-3C>T | NP_001341729.1:n.46-3C>T | |
| NM_033507.2:c.49-3C>T | NP_277042.1:n.49-3C>T | |
| NM_033508.2:c.43-3C>T | NP_277043.1:n.43-3C>T | |
| NM_000162.5:c.46-3C>T MANE Select | NP_000153.1:n.46-3C>T | |
| NM_033507.3:c.49-3C>T | NP_277042.1:n.49-3C>T | |
| NM_033508.3:c.43-3C>T | NP_277043.1:n.43-3C>T |