Linked Data
ClinVar Variation Id:
942686
ClinVar RCV Id:
RCV001212715
dbSNP Id:
rs1802376231
COSMIC:
COSM4672614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143319753A>G , CM000669.2:g.143319753A>G | GRCh38 |
| NC_000007.13:g.143016846A>G , CM000669.1:g.143016846A>G | GRCh37 |
| NC_000007.12:g.142726968A>G | NCBI36 |
| NG_009815.1:g.8628A>G | |
| NG_009815.2:g.8628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.181-2A>G | ENSP00000498052.2:n.181-2A>G | |
| ENST00000343257.7:c.181-2A>G MANE Select | ENSP00000339867.2:n.181-2A>G | |
| ENST00000650516.1:c.181-2A>G | ENSP00000498052.1:n.181-2A>G | |
| ENST00000343257.6:c.181-2A>G | ENSP00000339867.2:n.181-2A>G | |
| NM_000083.2:c.181-2A>G | NP_000074.2:n.181-2A>G | |
| NR_046453.1:n.268-2A>G | ||
| XM_011515781.1:c.181-2A>G | XP_011514083.1:n.181-2A>G | |
| XM_017011739.1:c.-115A>G | XP_016867228.1:n.-115A>G | |
| XM_017011740.1:c.-115A>G | XP_016867229.1:n.-115A>G | |
| NM_000083.3:c.181-2A>G MANE Select | NP_000074.3:n.181-2A>G | |
| NR_046453.2:n.283-2A>G |