Linked Data
dbSNP Id:
rs1364945902
gnomAD v2:
12-40340909-T-C
gnomAD v3:
12-39947107-T-C
gnomAD v4:
12-39947107-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39947107T>C , CM000674.2:g.39947107T>C | GRCh38 |
| NC_000012.11:g.40340909T>C , CM000674.1:g.40340909T>C | GRCh37 |
| NC_000012.10:g.38627176T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280871.9:c.1034+4150A>G MANE Select | ENSP00000280871.4:n.1034+4150A>G | |
| ENST00000280871.8:c.1034+4150A>G | ENSP00000280871.4:n.1034+4150A>G | |
| NM_052885.3:c.1034+4150A>G | NP_443117.3:n.1034+4150A>G | |
| XM_011537847.1:c.1034+4150A>G | XP_011536149.1:n.1034+4150A>G | |
| XM_011537848.1:c.1034+4150A>G | XP_011536150.1:n.1034+4150A>G | |
| XM_011537849.1:c.1034+4150A>G | XP_011536151.1:n.1034+4150A>G | |
| XM_011537850.1:c.1034+4150A>G | XP_011536152.1:n.1034+4150A>G | |
| XM_011537847.2:c.1034+4150A>G | XP_011536149.1:n.1034+4150A>G | |
| XM_011537849.2:c.1034+4150A>G | XP_011536151.1:n.1034+4150A>G | |
| XM_011537850.3:c.1034+4150A>G | XP_011536152.1:n.1034+4150A>G | |
| XM_017018764.1:c.467+4150A>G | XP_016874253.1:n.467+4150A>G | |
| XM_017018765.1:c.467+4150A>G | XP_016874254.1:n.467+4150A>G | |
| XM_017018766.1:c.314+4150A>G | XP_016874255.1:n.314+4150A>G | |
| XR_001748567.2:n.1311+4150A>G | ||
| XR_001748568.1:n.1311+4150A>G | ||
| NM_052885.4:c.1034+4150A>G MANE Select | NP_443117.3:n.1034+4150A>G |