Linked Data
dbSNP Id:
rs1647833643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732839G>C , CM000663.2:g.115732839G>C | GRCh38 |
| NC_000001.10:g.116275460G>C , CM000663.1:g.116275460G>C | GRCh37 |
| NC_000001.9:g.116076983G>C | NCBI36 |
| NG_008802.1:g.40967C>G , LRG_404:g.40967C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.330+62C>G | ENSP00000518226.1:n.330+62C>G | |
| ENST00000261448.6:c.606+62C>G MANE Select | ENSP00000261448.5:n.606+62C>G | |
| ENST00000261448.5:c.606+62C>G | ENSP00000261448.5:n.606+62C>G | |
| ENST00000488931.1:n.27+62C>G | ||
| NM_001232.3:c.606+62C>G , LRG_404t1:c.606+62C>G | NP_001223.2:n.606+62C>G | |
| NM_001232.4:c.606+62C>G MANE Select | NP_001223.2:n.606+62C>G |