HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951774A>T , CM000670.2:g.19951774A>T | GRCh38 |
NC_000008.10:g.19809285A>T , CM000670.1:g.19809285A>T | GRCh37 |
NC_000008.9:g.19853565A>T | NCBI36 |
NG_008855.1:g.17704A>T | |
NG_008855.2:g.55058A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.255A>T MANE Select | ENSP00000497642.1:p.Thr85= | |
ENST00000311322.8:c.255A>T | ENSP00000309757.6:p.Thr85= | |
ENST00000520959.5:c.27A>T | ENSP00000428496.1:p.Thr9= | |
ENST00000521994.1:n.512A>T | ||
ENST00000522701.5:c.255A>T | ENSP00000428557.1:p.Thr85= | |
ENST00000524029.5:c.255A>T | ENSP00000428237.1:p.Thr85= | |
NM_000237.2:c.255A>T | NP_000228.1:p.Thr85= | |
NM_000237.3:c.255A>T MANE Select | NP_000228.1:p.Thr85= |