HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028049A>T , CM000666.2:g.52028049A>T | GRCh38 |
NC_000004.11:g.52894215A>T , CM000666.1:g.52894215A>T | GRCh37 |
NC_000004.10:g.52588972A>T | NCBI36 |
NG_008891.1:g.15271T>A , LRG_204:g.15271T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.672T>A MANE Select | ENSP00000370839.6:p.Ala224= | |
ENST00000381431.9:c.672T>A | ENSP00000370839.5:p.Ala224= | |
NM_000232.4:c.672T>A , LRG_204t1:c.672T>A | NP_000223.1:p.Ala224= | |
XM_006714049.2:c.375T>A | XP_006714112.1:p.Ala125= | |
XM_011534403.1:c.462T>A | XP_011532705.1:p.Ala154= | |
XM_011534404.1:c.375T>A | XP_011532706.1:p.Ala125= | |
NM_000232.5:c.672T>A MANE Select | NP_000223.1:p.Ala224= |