Linked Data
dbSNP Id:
rs746712553
ExAC:
17:41061471 A / G
gnomAD v2:
17-41061471-A-G
gnomAD v3:
17-42909454-A-G
gnomAD v4:
17-42909454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909454A>G , CM000679.2:g.42909454A>G | GRCh38 |
| NC_000017.10:g.41061471A>G , CM000679.1:g.41061471A>G | GRCh37 |
| NC_000017.9:g.38314997A>G | NCBI36 |
| NG_011808.1:g.13657A>G , LRG_147:g.13657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.562+36A>G MANE Select | ENSP00000253801.1:n.562+36A>G | |
| ENST00000253801.6:c.562+36A>G | ENSP00000253801.1:n.562+36A>G | |
| ENST00000585489.1:c.447-1461A>G | ENSP00000466202.1:n.447-1461A>G | |
| ENST00000592383.5:c.485+36A>G | ENSP00000465958.1:n.485+36A>G | |
| NM_000151.3:c.562+36A>G | NP_000142.2:n.562+36A>G | |
| NM_001270397.1:c.485+36A>G | NP_001257326.1:n.485+36A>G | |
| NM_000151.4:c.562+36A>G MANE Select | NP_000142.2:n.562+36A>G | |
| NM_001270397.2:c.485+36A>G | NP_001257326.1:n.485+36A>G |