Linked Data
ClinVar Variation Id:
372110
ClinVar RCV Id:
RCV000412521
dbSNP Id:
rs1057517654
PubMed:
PMID:20301391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674733A>C , CM000671.2:g.136674733A>C | GRCh38 |
| NC_000009.11:g.139569185A>C , CM000671.1:g.139569185A>C | GRCh37 |
| NC_000009.10:g.138689006A>C | NCBI36 |
| NG_008090.1:g.17727T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.661+2T>G MANE Select | ENSP00000360761.2:n.661+2T>G | |
| ENST00000371694.7:c.565+2T>G | ENSP00000360759.3:n.565+2T>G | |
| ENST00000371696.6:c.661+2T>G | ENSP00000360761.2:n.661+2T>G | |
| ENST00000472820.1:n.589+2T>G | ||
| ENST00000538402.1:c.661+2T>G | ENSP00000438919.1:n.661+2T>G | |
| NM_001012727.1:c.565+2T>G | NP_001012745.1:n.565+2T>G | |
| NM_006412.3:c.661+2T>G | NP_006403.2:n.661+2T>G | |
| NM_006412.4:c.661+2T>G MANE Select | NP_006403.2:n.661+2T>G | |
| NM_001012727.2:c.565+2T>G | NP_001012745.1:n.565+2T>G |