HGVS | Genome Assembly |
---|---|
NC_000004.12:g.185144994T>G , CM000666.2:g.185144994T>G | GRCh38 |
NC_000004.11:g.186066148T>G , CM000666.1:g.186066148T>G | GRCh37 |
NC_000004.10:g.186303142T>G | NCBI36 |
NG_013001.1:g.6732T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281456.11:c.342T>G MANE Select | ENSP00000281456.5:p.Ala114= | |
ENST00000281456.10:c.342T>G | ENSP00000281456.5:p.Ala114= | |
ENST00000491736.1:c.342T>G | ENSP00000476711.1:p.Ala114= | |
NM_001151.3:c.342T>G | NP_001142.2:p.Ala114= | |
NM_001151.4:c.342T>G MANE Select | NP_001142.2:p.Ala114= |