Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123879A>G , CM000666.2:g.46123879A>G | GRCh38 |
| NC_000004.11:g.46125896A>G , CM000666.1:g.46125896A>G | GRCh37 |
| NC_000004.10:g.45820653A>G | NCBI36 |
| NG_046964.1:g.5187T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.35T>C MANE Select | ENSP00000295452.4:p.Phe12Ser | |
| ENST00000295452.4:c.35T>C | ENSP00000295452.4:p.Phe12Ser | |
| NM_173536.3:c.35T>C | NP_775807.2:p.Phe12Ser | |
| NM_173536.4:c.35T>C MANE Select | NP_775807.2:p.Phe12Ser |