Linked Data
ClinVar Variation Id:
92126
ClinVar RCV Id:
RCV000077792
dbSNP Id:
rs398123006
COSMIC:
COSM3643323
PubMed:
PMID:23813623
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101631636G>A , CM000670.2:g.101631636G>A | GRCh38 |
| NC_000008.10:g.102643864G>A , CM000670.1:g.102643864G>A | GRCh37 |
| NC_000008.9:g.102713040G>A | NCBI36 |
| NG_011971.1:g.144197G>A | |
| NG_011971.2:g.144197G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646743.1:c.1258-1G>A MANE Select | ENSP00000495564.1:n.1258-1G>A | |
| ENST00000251808.7:c.1258-1G>A | ENSP00000251808.3:n.1258-1G>A | |
| ENST00000395927.1:c.1210-1G>A | ENSP00000379260.1:n.1210-1G>A | |
| NM_024915.3:c.1258-1G>A | NP_079191.2:n.1258-1G>A | |
| XM_011517305.1:c.1210-1G>A | XP_011515607.1:n.1210-1G>A | |
| XM_011517306.1:c.1210-1G>A | XP_011515608.1:n.1210-1G>A | |
| XM_011517307.1:c.1258-1G>A | XP_011515609.1:n.1258-1G>A | |
| NM_001330593.1:c.1210-1G>A | NP_001317522.1:n.1210-1G>A | |
| XM_011517306.3:c.1210-1G>A | XP_011515608.1:n.1210-1G>A | |
| XM_011517307.3:c.1258-1G>A | XP_011515609.1:n.1258-1G>A | |
| NM_001330593.2:c.1210-1G>A | NP_001317522.1:n.1210-1G>A | |
| NM_024915.4:c.1258-1G>A MANE Select | NP_079191.2:n.1258-1G>A |