Linked Data
ClinVar Variation Id:
1062336
ClinVar RCV Id:
RCV001372037
dbSNP Id:
rs2125168940
COSMIC:
COSM3577982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421544G>A , CM000664.2:g.219421544G>A | GRCh38 |
| NC_000002.11:g.220286266G>A , CM000664.1:g.220286266G>A | GRCh37 |
| NC_000002.10:g.219994510G>A | NCBI36 |
| NG_008043.1:g.8168G>A , LRG_380:g.8168G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.702G>A | ||
| ENST00000683013.1:n.616G>A | ||
| ENST00000373960.4:c.1228G>A MANE Select | ENSP00000363071.3:p.Glu410Lys | |
| ENST00000373960.3:c.1228G>A | ENSP00000363071.3:p.Glu410Lys | |
| ENST00000477226.5:n.700G>A | ||
| ENST00000492726.1:n.623G>A | ||
| NM_001927.3:c.1228G>A , LRG_380t1:c.1228G>A | NP_001918.3:p.Glu410Lys | |
| NM_001927.4:c.1228G>A MANE Select | NP_001918.3:p.Glu410Lys | |
| NM_001382708.1:c.1225G>A | NP_001369637.1:p.Glu409Lys | |
| NM_001382709.1:c.796G>A | NP_001369638.1:p.Glu266Lys | |
| NM_001382710.1:c.1159G>A | NP_001369639.1:p.Glu387Lys | |
| NM_001382711.1:c.1207G>A | NP_001369640.1:p.Glu403Lys | |
| NM_001382712.1:c.1228G>A | NP_001369641.1:p.Glu410Lys | |
| NM_001382713.1:c.958G>A | NP_001369642.1:p.Glu320Lys |