HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957017T>A , CM000685.2:g.154957017T>A | GRCh38 |
NC_000023.10:g.154185292T>A , CM000685.1:g.154185292T>A | GRCh37 |
NC_000023.9:g.153838486T>A | NCBI36 |
NG_011403.1:g.70707A>T | |
NG_011403.2:g.70707A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1692A>T MANE Select | ENSP00000353393.4:p.Ser564= | |
ENST00000647125.1:c.*1568A>T | ENSP00000496062.1:n.*1568A>T | |
ENST00000360256.8:c.1692A>T | ENSP00000353393.4:p.Ser564= | |
NM_000132.3:c.1692A>T | NP_000123.1:p.Ser564= | |
XM_011531126.1:c.1587A>T | XP_011529428.1:p.Ser529= | |
NM_000132.4:c.1692A>T MANE Select | NP_000123.1:p.Ser564= |