Linked Data
ClinVar Variation Id:
91898
ClinVar RCV Id:
RCV000443453
dbSNP Id:
rs202247795
gnomAD v4:
2-211702102-C-T
COSMIC:
COSM131768
PubMed:
PMID:19718025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211702102C>T , CM000664.2:g.211702102C>T | GRCh38 |
| NC_000002.11:g.212566827C>T , CM000664.1:g.212566827C>T | GRCh37 |
| NC_000002.10:g.212275072C>T | NCBI36 |
| NG_011805.1:g.841526G>A | |
| NG_011805.2:g.841527G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260943.11:c.1354G>A | ENSP00000260943.7:p.Glu452Lys | |
| ENST00000342788.9:c.1354G>A MANE Select | ENSP00000342235.4:p.Glu452Lys | |
| ENST00000402597.6:c.1276G>A | ENSP00000385565.3:p.Glu426Lys | |
| ENST00000260943.10:c.1353G>A | ||
| ENST00000342788.8:c.1354G>A | ENSP00000342235.4:p.Glu452Lys | |
| ENST00000402597.5:c.1177G>A | ENSP00000385565.2:p.Glu393Lys | |
| ENST00000436443.5:c.1354G>A | ENSP00000403204.1:p.Glu452Lys | |
| ENST00000484594.5:n.1406G>A | ||
| NM_001042599.1:c.1354G>A | NP_001036064.1:p.Glu452Lys | |
| NM_005235.2:c.1354G>A | NP_005226.1:p.Glu452Lys | |
| XM_005246375.1:c.1354G>A | XP_005246432.1:p.Glu452Lys | |
| XM_005246376.1:c.1354G>A | XP_005246433.1:p.Glu452Lys | |
| XM_005246377.1:c.1354G>A | XP_005246434.1:p.Glu452Lys | |
| XM_006712364.1:c.1354G>A | XP_006712427.1:p.Glu452Lys | |
| XM_005246376.3:c.1354G>A | XP_005246433.1:p.Glu452Lys | |
| XM_005246377.3:c.1354G>A | XP_005246434.1:p.Glu452Lys | |
| XM_006712364.3:c.1354G>A | XP_006712427.1:p.Glu452Lys | |
| XM_017003577.2:c.1432G>A | XP_016859066.1:p.Glu478Lys | |
| XM_017003578.2:c.1432G>A | XP_016859067.1:p.Glu478Lys | |
| XM_017003579.2:c.1432G>A | XP_016859068.1:p.Glu478Lys | |
| XM_017003580.2:c.1432G>A | XP_016859069.1:p.Glu478Lys | |
| XM_017003581.2:c.1432G>A | XP_016859070.1:p.Glu478Lys | |
| XM_017003582.1:c.733G>A | XP_016859071.1:p.Glu245Lys | |
| NM_005235.3:c.1354G>A MANE Select | NP_005226.1:p.Glu452Lys |