Linked Data
dbSNP Id:
rs776637204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93998130C>T , CM000663.2:g.93998130C>T | GRCh38 |
| NC_000001.10:g.94463686C>T , CM000663.1:g.94463686C>T | GRCh37 |
| NC_000001.9:g.94236274C>T | NCBI36 |
| NG_009073.1:g.128020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6480-20G>A MANE Select | ENSP00000359245.3:n.6480-20G>A | |
| ENST00000370225.3:c.6480-20G>A | ENSP00000359245.3:n.6480-20G>A | |
| ENST00000536513.5:c.2856-20G>A | ENSP00000439707.2:n.2856-20G>A | |
| NM_000350.2:c.6480-20G>A | NP_000341.2:n.6480-20G>A | |
| NM_000350.3:c.6480-20G>A MANE Select | NP_000341.2:n.6480-20G>A |