Linked Data
ClinVar Variation Id:
972805
dbSNP Id:
rs1176858193
gnomAD v2:
7-44187403-C-T
gnomAD v4:
7-44147804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147804C>T , CM000669.2:g.44147804C>T | GRCh38 |
| NC_000007.13:g.44187403C>T , CM000669.1:g.44187403C>T | GRCh37 |
| NC_000007.12:g.44153928C>T | NCBI36 |
| NG_008847.1:g.46620G>A | |
| NG_008847.2:g.55367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*707G>A | ENSP00000379142.4:n.*707G>A | |
| ENST00000616242.5:c.709G>A | ENSP00000482149.2:p.Glu237Lys | |
| ENST00000345378.7:c.712G>A | ENSP00000223366.2:p.Glu238Lys | |
| ENST00000403799.8:c.709G>A MANE Select | ENSP00000384247.3:p.Glu237Lys | |
| ENST00000671824.1:c.709G>A | ENSP00000500264.1:p.Glu237Lys | |
| ENST00000673284.1:c.709G>A | ENSP00000499852.1:p.Glu237Lys | |
| ENST00000345378.6:c.712G>A | ENSP00000223366.2:p.Glu238Lys | |
| ENST00000395796.7:c.706G>A | ENSP00000379142.3:p.Glu236Lys | |
| ENST00000403799.7:c.709G>A | ENSP00000384247.3:p.Glu237Lys | |
| ENST00000437084.1:c.658G>A | ENSP00000402840.1:p.Glu220Lys | |
| ENST00000616242.4:c.706G>A | ENSP00000482149.1:p.Glu236Lys | |
| NM_000162.3:c.709G>A | NP_000153.1:p.Glu237Lys | |
| NM_033507.1:c.712G>A | NP_277042.1:p.Glu238Lys | |
| NM_033508.1:c.706G>A | NP_277043.1:p.Glu236Lys | |
| XR_927223.1:n.82+56C>T | ||
| NM_000162.4:c.709G>A | NP_000153.1:p.Glu237Lys | |
| NM_001354800.1:c.709G>A | NP_001341729.1:p.Glu237Lys | |
| NM_033507.2:c.712G>A | NP_277042.1:p.Glu238Lys | |
| NM_033508.2:c.706G>A | NP_277043.1:p.Glu236Lys | |
| XR_927223.2:n.82+56C>T | ||
| NM_000162.5:c.709G>A MANE Select | NP_000153.1:p.Glu237Lys | |
| NM_033507.3:c.712G>A | NP_277042.1:p.Glu238Lys | |
| NM_033508.3:c.706G>A | NP_277043.1:p.Glu236Lys |