Linked Data
ClinVar Variation Id:
372102
ClinVar RCV Id:
RCV000412588
dbSNP Id:
rs1057517649
PubMed:
PMID:20301391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677558T>C , CM000671.2:g.136677558T>C | GRCh38 |
| NC_000009.11:g.139572010T>C , CM000671.1:g.139572010T>C | GRCh37 |
| NC_000009.10:g.138691831T>C | NCBI36 |
| NG_008090.1:g.14902A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.183-2A>G MANE Select | ENSP00000360761.2:n.183-2A>G | |
| ENST00000371694.7:c.183-2A>G | ENSP00000360759.3:n.183-2A>G | |
| ENST00000371696.6:c.183-2A>G | ENSP00000360761.2:n.183-2A>G | |
| ENST00000470861.1:n.191-2A>G | ||
| ENST00000538402.1:c.183-2A>G | ENSP00000438919.1:n.183-2A>G | |
| NM_001012727.1:c.183-2A>G | NP_001012745.1:n.183-2A>G | |
| NM_006412.3:c.183-2A>G | NP_006403.2:n.183-2A>G | |
| NM_006412.4:c.183-2A>G MANE Select | NP_006403.2:n.183-2A>G | |
| NM_001012727.2:c.183-2A>G | NP_001012745.1:n.183-2A>G |