HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957128T= , CM000685.2:g.154957128T= | GRCh38 |
NC_000023.10:g.154185403T= , CM000685.1:g.154185403T= | GRCh37 |
NC_000023.9:g.153838597T= | NCBI36 |
NG_011403.1:g.70596A= | |
NG_011403.2:g.70596A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1581A= MANE Select | ENSP00000353393.4:p.Ile527= | |
ENST00000647125.1:c.*1457A= | ENSP00000496062.1:n.*1457A= | |
ENST00000360256.8:c.1581A= | ENSP00000353393.4:p.Ile527= | |
NM_000132.3:c.1581A= | NP_000123.1:p.Ile527= | |
XM_011531126.1:c.1476A= | XP_011529428.1:p.Ile492= | |
NM_000132.4:c.1581A= MANE Select | NP_000123.1:p.Ile527= |