HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966092T>A , CM000685.2:g.154966092T>A | GRCh38 |
NC_000023.10:g.154194367T>A , CM000685.1:g.154194367T>A | GRCh37 |
NC_000023.9:g.153847561T>A | NCBI36 |
NG_011403.1:g.61632A>T | |
NG_011403.2:g.61632A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1321A>T MANE Select | ENSP00000353393.4:p.Lys441Ter | |
ENST00000647125.1:c.*1197A>T | ENSP00000496062.1:n.*1197A>T | |
ENST00000360256.8:c.1321A>T | ENSP00000353393.4:p.Lys441Ter | |
ENST00000483822.2:n.141A>T | ||
NM_000132.3:c.1321A>T | NP_000123.1:p.Lys441Ter | |
XM_011531126.1:c.1216A>T | XP_011529428.1:p.Lys406Ter | |
NM_000132.4:c.1321A>T MANE Select | NP_000123.1:p.Lys441Ter |