HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571227C>T , CM000663.2:g.154571227C>T | GRCh38 |
NC_000001.10:g.154543703C>T , CM000663.1:g.154543703C>T | GRCh37 |
NC_000001.9:g.152810327C>T | NCBI36 |
NG_008027.1:g.8447C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.404C>T MANE Select | ENSP00000357461.3:p.Ala135Val | |
ENST00000636034.1:c.404C>T | ENSP00000489703.1:p.Ala135Val | |
ENST00000637900.1:c.410C>T | ENSP00000490474.1:p.Ala137Val | |
ENST00000368476.3:c.404C>T | ENSP00000357461.3:p.Ala135Val | |
NM_000748.2:c.404C>T | NP_000739.1:p.Ala135Val | |
XM_017000180.2:c.-9-98C>T | XP_016855669.1:n.-9-98C>T | |
XR_001736952.2:n.656C>T | ||
NM_000748.3:c.404C>T MANE Select | NP_000739.1:p.Ala135Val |