Linked Data
ClinVar Variation Id:
375573
ClinVar RCV Id:
RCV000417061
dbSNP Id:
rs1057519419
gnomAD v4:
1-193125110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193125110A>G , CM000663.2:g.193125110A>G | GRCh38 |
| NC_000001.10:g.193094240A>G , CM000663.1:g.193094240A>G | GRCh37 |
| NC_000001.9:g.191360863A>G | NCBI36 |
| NG_012691.1:g.8153A>G , LRG_507:g.8153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.132-2A>G MANE Select | ENSP00000356405.4:n.132-2A>G | |
| ENST00000635846.1:c.132-2A>G | ENSP00000490035.1:n.132-2A>G | |
| ENST00000643006.1:c.132-2A>G | ENSP00000496633.1:n.132-2A>G | |
| ENST00000643784.1:c.132-2A>G | ENSP00000494944.1:n.132-2A>G | |
| ENST00000647662.1:n.33-2A>G | ||
| ENST00000648071.1:c.132-2A>G | ENSP00000497513.1:n.132-2A>G | |
| ENST00000649606.1:n.145-2A>G | ||
| ENST00000649706.1:n.73-2A>G | ||
| ENST00000649895.1:n.350-2A>G | ||
| ENST00000650197.1:c.132-2A>G | ENSP00000496929.1:n.132-2A>G | |
| ENST00000367435.3:c.132-2A>G | ENSP00000356405.3:n.132-2A>G | |
| ENST00000482484.1:n.93-2A>G | ||
| NM_024529.4:c.132-2A>G , LRG_507t1:c.132-2A>G | NP_078805.3:n.132-2A>G | |
| XM_006711537.2:c.132-2A>G | XP_006711600.1:n.132-2A>G | |
| XR_241165.2:n.304-803T>C | ||
| XM_006711537.4:c.132-2A>G | XP_006711600.1:n.132-2A>G | |
| NM_024529.5:c.132-2A>G MANE Select | NP_078805.3:n.132-2A>G |