Linked Data
dbSNP Id:
rs1030800298
gnomAD v2:
16-16253483-T-C
gnomAD v3:
16-16159626-T-C
gnomAD v4:
16-16159626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159626T>C , CM000678.2:g.16159626T>C | GRCh38 |
| NC_000016.9:g.16253483T>C , CM000678.1:g.16253483T>C | GRCh37 |
| NC_000016.8:g.16160984T>C | NCBI36 |
| NG_007558.2:g.68846A>G | |
| NG_007558.3:g.68992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3634-43A>G | ENSP00000483331.2:n.3634-43A>G | |
| ENST00000205557.12:c.3634-43A>G MANE Select | ENSP00000205557.7:n.3634-43A>G | |
| ENST00000640696.1:c.448-43A>G | ENSP00000492197.1:n.448-43A>G | |
| ENST00000205557.11:c.3634-43A>G | ENSP00000205557.7:n.3634-43A>G | |
| ENST00000456970.6:c.3259-43A>G | ENSP00000405002.2:n.3259-43A>G | |
| ENST00000622290.4:c.*843-43A>G | ENSP00000483331.1:n.*843-43A>G | |
| NM_001171.5:c.3634-43A>G | NP_001162.4:n.3634-43A>G | |
| XM_011522479.1:c.3601-43A>G | XP_011520781.1:n.3601-43A>G | |
| XM_011522480.1:c.3292-43A>G | XP_011520782.1:n.3292-43A>G | |
| XM_011522481.1:c.3292-43A>G | XP_011520783.1:n.3292-43A>G | |
| XR_932836.1:n.3869-43A>G | ||
| XR_932837.1:n.3670-43A>G | ||
| XR_932838.1:n.3670-43A>G | ||
| XR_933133.1:n.37T>C | ||
| XR_933134.1:n.539-155T>C | ||
| NM_001351800.1:c.3292-43A>G | NP_001338729.1:n.3292-43A>G | |
| NR_147784.1:n.3296-43A>G | ||
| XM_011522479.2:c.3601-43A>G | XP_011520781.1:n.3601-43A>G | |
| XM_011522481.3:c.3292-43A>G | XP_011520783.1:n.3292-43A>G | |
| XM_017023212.1:c.3466-43A>G | XP_016878701.1:n.3466-43A>G | |
| XM_024450261.1:c.3670-43A>G | XP_024306029.1:n.3670-43A>G | |
| XR_932836.2:n.3815-43A>G | ||
| XR_932837.3:n.3615-43A>G | ||
| XR_932838.3:n.3615-43A>G | ||
| NM_001171.6:c.3634-43A>G MANE Select | NP_001162.5:n.3634-43A>G |