Linked Data
ClinVar Variation Id:
419237
dbSNP Id:
rs1064793741
gnomAD v4:
1-241513715-T-C
COSMIC:
COSM5808745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241513715T>C , CM000663.2:g.241513715T>C | GRCh38 |
| NC_000001.10:g.241677015T>C , CM000663.1:g.241677015T>C | GRCh37 |
| NC_000001.9:g.239743638T>C | NCBI36 |
| NG_012338.1:g.11040A>G , LRG_504:g.11040A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.771-2A>G | ||
| ENST00000682162.1:c.297-2A>G | ENSP00000508203.1:n.297-2A>G | |
| ENST00000682567.1:n.345-2A>G | ||
| ENST00000683521.1:c.268-2A>G | ENSP00000506864.1:n.268-2A>G | |
| ENST00000684483.1:c.268-2A>G | ENSP00000507894.1:n.268-2A>G | |
| ENST00000366560.4:c.268-2A>G MANE Select | ENSP00000355518.4:n.268-2A>G | |
| ENST00000366560.3:c.268-2A>G | ENSP00000355518.3:n.268-2A>G | |
| ENST00000493477.1:n.381-2A>G | ||
| NM_000143.3:c.268-2A>G , LRG_504t1:c.268-2A>G | NP_000134.2:n.268-2A>G | |
| XM_011544132.1:c.40-2A>G | XP_011542434.1:n.40-2A>G | |
| XM_011544132.2:c.40-2A>G | XP_011542434.1:n.40-2A>G | |
| NM_000143.4:c.268-2A>G MANE Select | NP_000134.2:n.268-2A>G |