Linked Data
dbSNP Id:
rs539815930
ExAC:
1:94512636 T / G
gnomAD v2:
1-94512636-T-G
gnomAD v4:
1-94047080-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047080T>G , CM000663.2:g.94047080T>G | GRCh38 |
| NC_000001.10:g.94512636T>G , CM000663.1:g.94512636T>G | GRCh37 |
| NC_000001.9:g.94285224T>G | NCBI36 |
| NG_009073.1:g.79070A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2757A>C MANE Select | ENSP00000359245.3:p.Glu919Asp | |
| ENST00000649773.1:c.2535A>C | ENSP00000496882.1:p.Glu845Asp | |
| ENST00000370225.3:c.2757A>C | ENSP00000359245.3:p.Glu919Asp | |
| ENST00000536513.5:c.-64-6991A>C | ENSP00000439707.2:n.-64-6991A>C | |
| NM_000350.2:c.2757A>C | NP_000341.2:p.Glu919Asp | |
| NM_000350.3:c.2757A>C MANE Select | NP_000341.2:p.Glu919Asp |