Linked Data
dbSNP Id:
rs143861504
gnomAD v4:
1-193203957-A-G
MyVariant Identifiers:
chr1:g.193203957A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203957A>G , CM000663.2:g.193203957A>G | GRCh38 |
| NC_000001.10:g.193173087A>G , CM000663.1:g.193173087A>G | GRCh37 |
| NC_000001.9:g.191439710A>G | NCBI36 |
| NG_012691.1:g.87000A>G , LRG_507:g.87000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1030+105A>G MANE Select | ENSP00000356405.4:n.1030+105A>G | |
| ENST00000635846.1:c.787+105A>G | ENSP00000490035.1:n.787+105A>G | |
| ENST00000643006.1:c.1098+105A>G | ENSP00000496633.1:n.1098+105A>G | |
| ENST00000648071.1:c.*1006+105A>G | ENSP00000497513.1:n.*1006+105A>G | |
| ENST00000649613.1:n.280+105A>G | ||
| ENST00000649895.1:n.1248+105A>G | ||
| ENST00000650197.1:c.1030+105A>G | ENSP00000496929.1:n.1030+105A>G | |
| ENST00000367435.3:c.1030+105A>G | ENSP00000356405.3:n.1030+105A>G | |
| NM_024529.4:c.1030+105A>G , LRG_507t1:c.1030+105A>G | NP_078805.3:n.1030+105A>G | |
| NM_024529.5:c.1030+105A>G MANE Select | NP_078805.3:n.1030+105A>G |