HGVS | Genome Assembly |
---|---|
NC_000023.11:g.151181315C>A , CM000685.2:g.151181315C>A | GRCh38 |
NC_000023.10:g.150349787C>A , CM000685.1:g.150349787C>A | GRCh37 |
NC_000023.9:g.150100445C>A | NCBI36 |
NG_016405.1:g.9732C>A | |
NG_016405.2:g.9732C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218316.4:c.1732C>A MANE Select | ENSP00000218316.3:p.Gln578Lys | |
ENST00000218316.3:c.1732C>A | ENSP00000218316.3:p.Gln578Lys | |
ENST00000617907.1:c.1726C>A | ENSP00000484496.1:p.Gln576Lys | |
NM_004224.3:c.1732C>A MANE Select | NP_004215.2:p.Gln578Lys | |
XM_011531216.1:c.991C>A | XP_011529518.1:p.Gln331Lys | |
XM_011531216.2:c.991C>A | XP_011529518.1:p.Gln331Lys |