HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23212144A>G , CM000670.2:g.23212144A>G | GRCh38 |
NC_000008.10:g.23069657A>G , CM000670.1:g.23069657A>G | GRCh37 |
NC_000008.9:g.23125602A>G | NCBI36 |
NG_032107.1:g.18024T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.375T>C MANE Select | ENSP00000221132.3:p.His125= | |
ENST00000221132.7:c.375T>C | ENSP00000221132.3:p.His125= | |
ENST00000524158.5:c.-232T>C | ENSP00000428884.1:n.-232T>C | |
ENST00000613472.1:c.32-9485T>C | ENSP00000480778.1:n.32-9485T>C | |
NM_003844.3:c.375T>C | NP_003835.3:p.His125= | |
NM_003844.4:c.375T>C MANE Select | NP_003835.3:p.His125= |