HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32050001T>A , CM000684.2:g.32050001T>A | GRCh38 |
NC_000022.10:g.32445988T>A , CM000684.1:g.32445988T>A | GRCh37 |
NC_000022.9:g.30775988T>A | NCBI36 |
NG_017045.1:g.11970T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.194T>A MANE Select | ENSP00000266088.4:p.Met65Lys | |
ENST00000266088.8:c.194T>A | ENSP00000266088.4:p.Met65Lys | |
NM_000343.3:c.194T>A | NP_000334.1:p.Met65Lys | |
XM_011530331.1:c.194T>A | XP_011528633.1:p.Met65Lys | |
NM_000343.4:c.194T>A MANE Select | NP_000334.1:p.Met65Lys |