Linked Data
dbSNP Id:
rs143228196
gnomAD v2:
1-17662789-T-G
gnomAD v3:
1-17336294-T-G
gnomAD v4:
1-17336294-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336294T>G , CM000663.2:g.17336294T>G | GRCh38 |
| NC_000001.10:g.17662789T>G , CM000663.1:g.17662789T>G | GRCh37 |
| NC_000001.9:g.17535376T>G | NCBI36 |
| NG_023261.2:g.33105T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.408+68T>G MANE Select | ENSP00000364597.4:n.408+68T>G | |
| NM_012387.2:c.408+68T>G | NP_036519.2:n.408+68T>G | |
| XM_011541150.1:c.340+2285T>G | XP_011539452.1:n.340+2285T>G | |
| XM_011541151.1:c.408+68T>G | XP_011539453.1:n.408+68T>G | |
| XM_011541152.1:c.-12+68T>G | XP_011539454.1:n.-12+68T>G | |
| XM_011541153.1:c.408+68T>G | XP_011539455.1:n.408+68T>G | |
| XM_011541154.1:c.408+68T>G | XP_011539456.1:n.408+68T>G | |
| XM_011541155.1:c.408+68T>G | XP_011539457.1:n.408+68T>G | |
| XM_011541156.1:c.408+68T>G | XP_011539458.1:n.408+68T>G | |
| XM_011541157.1:c.-305+68T>G | XP_011539459.1:n.-305+68T>G | |
| XM_011541154.2:c.408+68T>G | XP_011539456.1:n.408+68T>G | |
| NM_012387.3:c.408+68T>G MANE Select | NP_036519.2:n.408+68T>G |