Linked Data
dbSNP Id:
rs545259074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909096G>C , CM000679.2:g.42909096G>C | GRCh38 |
| NC_000017.10:g.41061113G>C , CM000679.1:g.41061113G>C | GRCh37 |
| NC_000017.9:g.38314639G>C | NCBI36 |
| NG_011808.1:g.13299G>C , LRG_147:g.13299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.447-207G>C MANE Select | ENSP00000253801.1:n.447-207G>C | |
| ENST00000253801.6:c.447-207G>C | ENSP00000253801.1:n.447-207G>C | |
| ENST00000585489.1:c.446+1468G>C | ENSP00000466202.1:n.446+1468G>C | |
| ENST00000592383.5:c.370-207G>C | ENSP00000465958.1:n.370-207G>C | |
| NM_000151.3:c.447-207G>C | NP_000142.2:n.447-207G>C | |
| NM_001270397.1:c.370-207G>C | NP_001257326.1:n.370-207G>C | |
| NM_000151.4:c.447-207G>C MANE Select | NP_000142.2:n.447-207G>C | |
| NM_001270397.2:c.370-207G>C | NP_001257326.1:n.370-207G>C |