Linked Data
dbSNP Id:
rs1564795283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.202995A>G , CM000673.2:g.202995A>G | GRCh38 |
| NC_000011.9:g.202995A>G , CM000673.1:g.202995A>G | GRCh37 |
| NC_000011.8:g.192995A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382762.8:c.*2307T>C MANE Select | ENSP00000372210.3:n.*2307T>C | |
| ENST00000325147.13:c.*2475T>C | ENSP00000339093.7:n.*2475T>C | |
| ENST00000382762.7:c.*2307T>C | ENSP00000372210.3:n.*2307T>C | |
| ENST00000410108.5:c.168+2616T>C | ENSP00000386558.1:n.168+2616T>C | |
| NM_001098787.1:c.*2307T>C | NP_001092257.1:n.*2307T>C | |
| NM_016526.4:c.*2475T>C | NP_057610.2:n.*2475T>C | |
| NM_001098787.2:c.*2307T>C MANE Select | NP_001092257.1:n.*2307T>C | |
| NM_016526.5:c.*2475T>C | NP_057610.2:n.*2475T>C |