HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154956958T= , CM000685.2:g.154956958T= | GRCh38 |
NC_000023.10:g.154185233T= , CM000685.1:g.154185233T= | GRCh37 |
NC_000023.9:g.153838427T= | NCBI36 |
NG_011403.1:g.70766A= | |
NG_011403.2:g.70766A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1751A= MANE Select | ENSP00000353393.4:p.Gln584= | |
ENST00000647125.1:c.*1627A= | ENSP00000496062.1:n.*1627A= | |
ENST00000360256.8:c.1751A= | ENSP00000353393.4:p.Gln584= | |
NM_000132.3:c.1751A= | NP_000123.1:p.Gln584= | |
XM_011531126.1:c.1646A= | XP_011529428.1:p.Gln549= | |
NM_000132.4:c.1751A= MANE Select | NP_000123.1:p.Gln584= |