Linked Data
dbSNP Id:
rs1044362061
gnomAD v2:
16-16248953-T-C
gnomAD v3:
16-16155096-T-C
gnomAD v4:
16-16155096-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155096T>C , CM000678.2:g.16155096T>C | GRCh38 |
| NC_000016.9:g.16248953T>C , CM000678.1:g.16248953T>C | GRCh37 |
| NC_000016.8:g.16156454T>C | NCBI36 |
| NG_007558.2:g.73376A>G | |
| NG_007558.3:g.73522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.681A>G | ||
| ENST00000622290.5:c.*55-65A>G | ENSP00000483331.2:n.*55-65A>G | |
| ENST00000205557.12:c.3883-65A>G MANE Select | ENSP00000205557.7:n.3883-65A>G | |
| ENST00000640696.1:c.697-65A>G | ENSP00000492197.1:n.697-65A>G | |
| ENST00000205557.11:c.3883-65A>G | ENSP00000205557.7:n.3883-65A>G | |
| ENST00000456970.6:c.3508-65A>G | ENSP00000405002.2:n.3508-65A>G | |
| ENST00000576204.5:n.681A>G | ||
| ENST00000622290.4:c.*1092-65A>G | ENSP00000483331.1:n.*1092-65A>G | |
| NM_001171.5:c.3883-65A>G | NP_001162.4:n.3883-65A>G | |
| XM_011522479.1:c.3850-65A>G | XP_011520781.1:n.3850-65A>G | |
| XM_011522480.1:c.3541-65A>G | XP_011520782.1:n.3541-65A>G | |
| XM_011522481.1:c.3541-65A>G | XP_011520783.1:n.3541-65A>G | |
| XR_932836.1:n.4181-65A>G | ||
| XR_932837.1:n.3919-65A>G | ||
| XR_932838.1:n.3982-65A>G | ||
| XR_933134.1:n.539-4685T>C | ||
| NM_001351800.1:c.3541-65A>G | NP_001338729.1:n.3541-65A>G | |
| NR_147784.1:n.3545-65A>G | ||
| XM_011522479.2:c.3850-65A>G | XP_011520781.1:n.3850-65A>G | |
| XM_011522481.3:c.3541-65A>G | XP_011520783.1:n.3541-65A>G | |
| XM_017023212.1:c.3715-65A>G | XP_016878701.1:n.3715-65A>G | |
| XM_024450261.1:c.3919-65A>G | XP_024306029.1:n.3919-65A>G | |
| XR_932836.2:n.4127-65A>G | ||
| XR_932837.3:n.3864-65A>G | ||
| XR_932838.3:n.3927-65A>G | ||
| NM_001171.6:c.3883-65A>G MANE Select | NP_001162.5:n.3883-65A>G |