Linked Data
ClinVar Variation Id:
2701170
ClinVar RCV Id:
RCV003549568
gnomAD v4:
7-44145207-C-T
COSMIC:
COSM139701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145207C>T , CM000669.2:g.44145207C>T | GRCh38 |
| NC_000007.13:g.44184806C>T , CM000669.1:g.44184806C>T | GRCh37 |
| NC_000007.12:g.44151331C>T | NCBI36 |
| NG_008847.1:g.49217G>A | |
| NG_008847.2:g.57964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1325G>A | ENSP00000379142.4:n.*1325G>A | |
| ENST00000616242.5:c.*447G>A | ENSP00000482149.2:n.*447G>A | |
| ENST00000683378.1:n.553G>A | ||
| ENST00000336642.9:c.361G>A | ENSP00000338009.5:p.Glu121Lys | |
| ENST00000345378.7:c.1330G>A | ENSP00000223366.2:p.Glu444Lys | |
| ENST00000403799.8:c.1327G>A MANE Select | ENSP00000384247.3:p.Glu443Lys | |
| ENST00000671824.1:c.1390G>A | ENSP00000500264.1:p.Glu464Lys | |
| ENST00000672743.1:n.339G>A | ||
| ENST00000673284.1:c.1327G>A | ENSP00000499852.1:p.Glu443Lys | |
| ENST00000336642.8:c.379G>A | ENSP00000338009.4:p.Glu127Lys | |
| ENST00000345378.6:c.1330G>A | ENSP00000223366.2:p.Glu444Lys | |
| ENST00000395796.7:c.1324G>A | ENSP00000379142.3:p.Glu442Lys | |
| ENST00000403799.7:c.1327G>A | ENSP00000384247.3:p.Glu443Lys | |
| ENST00000437084.1:c.1276G>A | ENSP00000402840.1:p.Glu426Lys | |
| ENST00000459642.1:n.707G>A | ||
| ENST00000616242.4:c.1324G>A | ENSP00000482149.1:p.Glu442Lys | |
| NM_000162.3:c.1327G>A | NP_000153.1:p.Glu443Lys | |
| NM_033507.1:c.1330G>A | NP_277042.1:p.Glu444Lys | |
| NM_033508.1:c.1324G>A | NP_277043.1:p.Glu442Lys | |
| NM_000162.4:c.1327G>A | NP_000153.1:p.Glu443Lys | |
| NM_001354800.1:c.1327G>A | NP_001341729.1:p.Glu443Lys | |
| NM_001354801.1:c.316G>A | NP_001341730.1:p.Glu106Lys | |
| NM_001354802.1:c.187G>A | NP_001341731.1:p.Glu63Lys | |
| NM_001354803.1:c.361G>A | NP_001341732.1:p.Glu121Lys | |
| NM_033507.2:c.1330G>A | NP_277042.1:p.Glu444Lys | |
| NM_033508.2:c.1324G>A | NP_277043.1:p.Glu442Lys | |
| XM_024446707.1:c.187G>A | XP_024302475.1:p.Glu63Lys | |
| NM_000162.5:c.1327G>A MANE Select | NP_000153.1:p.Glu443Lys | |
| NM_033507.3:c.1330G>A | NP_277042.1:p.Glu444Lys | |
| NM_033508.3:c.1324G>A | NP_277043.1:p.Glu442Lys | |
| NM_001354803.2:c.361G>A | NP_001341732.1:p.Glu121Lys |