Linked Data
dbSNP Id:
rs1599933841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57166695A>G , CM000681.2:g.57166695A>G | GRCh38 |
| NC_000019.9:g.57678063A>G , CM000681.1:g.57678063A>G | GRCh37 |
| NC_000019.8:g.62369875A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554048.3:c.25+724T>C MANE Select | ENSP00000452398.1:n.25+724T>C | |
| ENST00000554048.2:c.25+724T>C | ENSP00000452398.1:n.25+724T>C | |
| NM_001012729.1:c.25+724T>C | NP_001012747.1:n.25+724T>C | |
| NM_001012729.2:c.25+724T>C MANE Select | NP_001012747.1:n.25+724T>C |