Linked Data
dbSNP Id:
rs1327768855
gnomAD v2:
13-33610322-C-G
gnomAD v3:
13-33036185-C-G
gnomAD v4:
13-33036185-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33036185C>G , CM000675.2:g.33036185C>G | GRCh38 |
| NC_000013.10:g.33610322C>G , CM000675.1:g.33610322C>G | GRCh37 |
| NC_000013.9:g.32508322C>G | NCBI36 |
| NG_011485.1:g.24752C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.820-17582C>G MANE Select | ENSP00000369442.3:n.820-17582C>G | |
| ENST00000380099.3:c.820-17582C>G | ENSP00000369442.3:n.820-17582C>G | |
| ENST00000487852.1:n.828-17582C>G | ||
| NM_004795.3:c.820-17582C>G | NP_004786.2:n.820-17582C>G | |
| XM_006719895.1:c.-102-17582C>G | XP_006719958.1:n.-102-17582C>G | |
| XM_006719895.2:c.-102-17582C>G | XP_006719958.1:n.-102-17582C>G | |
| NM_004795.4:c.820-17582C>G MANE Select | NP_004786.2:n.820-17582C>G |