Linked Data
dbSNP Id:
rs775333679
ExAC:
3:38523910 C / G
gnomAD v2:
3-38523910-C-G
gnomAD v4:
3-38482419-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38482419C>G , CM000665.2:g.38482419C>G | GRCh38 |
| NC_000003.11:g.38523910C>G , CM000665.1:g.38523910C>G | GRCh37 |
| NC_000003.10:g.38498914C>G | NCBI36 |
| NG_011791.1:g.33121C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352511.5:c.1214-11C>G MANE Select | ENSP00000340361.3:n.1214-11C>G | |
| ENST00000352511.4:c.1214-11C>G | ENSP00000340361.3:n.1214-11C>G | |
| ENST00000461232.1:n.5003-11C>G | ||
| ENST00000465020.5:n.1300-11C>G | ||
| NM_001106.3:c.1214-11C>G | NP_001097.2:n.1214-11C>G | |
| XM_005265583.2:c.1277-11C>G | XP_005265640.1:n.1277-11C>G | |
| XM_005265583.3:c.1277-11C>G | XP_005265640.1:n.1277-11C>G | |
| XM_017007514.1:c.1256-11C>G | XP_016863003.1:n.1256-11C>G | |
| XM_017007515.2:c.1232-11C>G | XP_016863004.1:n.1232-11C>G | |
| XM_017007516.1:c.1211-11C>G | XP_016863005.1:n.1211-11C>G | |
| NM_001106.4:c.1214-11C>G MANE Select | NP_001097.2:n.1214-11C>G |