Linked Data
ClinVar Variation Id:
2180958
ClinVar RCV Id:
RCV002619525
dbSNP Id:
rs1482530778
gnomAD v2:
4-52894169-C-T
gnomAD v3:
4-52028003-C-T
gnomAD v4:
4-52028003-C-T
COSMIC:
COSM3300932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028003C>T , CM000666.2:g.52028003C>T | GRCh38 |
| NC_000004.11:g.52894169C>T , CM000666.1:g.52894169C>T | GRCh37 |
| NC_000004.10:g.52588926C>T | NCBI36 |
| NG_008891.1:g.15317G>A , LRG_204:g.15317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.718G>A MANE Select | ENSP00000370839.6:p.Glu240Lys | |
| ENST00000381431.9:c.718G>A | ENSP00000370839.5:p.Glu240Lys | |
| NM_000232.4:c.718G>A , LRG_204t1:c.718G>A | NP_000223.1:p.Glu240Lys | |
| XM_006714049.2:c.421G>A | XP_006714112.1:p.Glu141Lys | |
| XM_011534403.1:c.508G>A | XP_011532705.1:p.Glu170Lys | |
| XM_011534404.1:c.421G>A | XP_011532706.1:p.Glu141Lys | |
| NM_000232.5:c.718G>A MANE Select | NP_000223.1:p.Glu240Lys |