Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123812G>T , CM000666.2:g.46123812G>T | GRCh38 |
| NC_000004.11:g.46125829G>T , CM000666.1:g.46125829G>T | GRCh37 |
| NC_000004.10:g.45820586G>T | NCBI36 |
| NG_046964.1:g.5254C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.102C>A MANE Select | ENSP00000295452.4:p.Asn34Lys | |
| ENST00000295452.4:c.102C>A | ENSP00000295452.4:p.Asn34Lys | |
| NM_173536.3:c.102C>A | NP_775807.2:p.Asn34Lys | |
| NM_173536.4:c.102C>A MANE Select | NP_775807.2:p.Asn34Lys |