Linked Data
dbSNP Id:
rs150468
gnomAD v2:
16-16252000-T-G
gnomAD v3:
16-16158143-T-G
gnomAD v4:
16-16158143-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16158143T>G , CM000678.2:g.16158143T>G | GRCh38 |
| NC_000016.9:g.16252000T>G , CM000678.1:g.16252000T>G | GRCh37 |
| NC_000016.8:g.16159501T>G | NCBI36 |
| NG_007558.2:g.70329A>C | |
| NG_007558.3:g.70475A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3736-334A>C | ENSP00000483331.2:n.3736-334A>C | |
| ENST00000205557.12:c.3736-334A>C MANE Select | ENSP00000205557.7:n.3736-334A>C | |
| ENST00000640696.1:c.550-334A>C | ENSP00000492197.1:n.550-334A>C | |
| ENST00000205557.11:c.3736-334A>C | ENSP00000205557.7:n.3736-334A>C | |
| ENST00000456970.6:c.3361-334A>C | ENSP00000405002.2:n.3361-334A>C | |
| ENST00000622290.4:c.*945-334A>C | ENSP00000483331.1:n.*945-334A>C | |
| NM_001171.5:c.3736-334A>C | NP_001162.4:n.3736-334A>C | |
| XM_011522479.1:c.3703-334A>C | XP_011520781.1:n.3703-334A>C | |
| XM_011522480.1:c.3394-334A>C | XP_011520782.1:n.3394-334A>C | |
| XM_011522481.1:c.3394-334A>C | XP_011520783.1:n.3394-334A>C | |
| XR_932836.1:n.3971-334A>C | ||
| XR_932837.1:n.3772-334A>C | ||
| XR_932838.1:n.3772-334A>C | ||
| XR_933134.1:n.539-1638T>G | ||
| NM_001351800.1:c.3394-334A>C | NP_001338729.1:n.3394-334A>C | |
| NR_147784.1:n.3398-334A>C | ||
| XM_011522479.2:c.3703-334A>C | XP_011520781.1:n.3703-334A>C | |
| XM_011522481.3:c.3394-334A>C | XP_011520783.1:n.3394-334A>C | |
| XM_017023212.1:c.3568-334A>C | XP_016878701.1:n.3568-334A>C | |
| XM_024450261.1:c.3772-334A>C | XP_024306029.1:n.3772-334A>C | |
| XR_932836.2:n.3917-334A>C | ||
| XR_932837.3:n.3717-334A>C | ||
| XR_932838.3:n.3717-334A>C | ||
| NM_001171.6:c.3736-334A>C MANE Select | NP_001162.5:n.3736-334A>C |