HGVS | Genome Assembly |
---|---|
NC_000007.14:g.64219892T>C , CM000669.2:g.64219892T>C | GRCh38 |
NC_000007.13:g.63680270T>C , CM000669.1:g.63680270T>C | GRCh37 |
NC_000007.12:g.63317705T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429565.5:c.841T>C MANE Select | ENSP00000485547.1:p.Ser281Pro | |
ENST00000429565.4:c.841T>C | ENSP00000485547.1:p.Ser281Pro | |
NM_001159524.1:c.841T>C MANE Select | NP_001152996.1:p.Ser281Pro |