HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159886534C>A , CM000663.2:g.159886534C>A | GRCh38 |
NC_000001.10:g.159856324C>A , CM000663.1:g.159856324C>A | GRCh37 |
NC_000001.9:g.158122948C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368099.9:c.744G>T MANE Select | ENSP00000357079.4:p.Arg248Ser | |
ENST00000368099.8:c.744G>T | ENSP00000357079.4:p.Arg248Ser | |
ENST00000426543.6:c.489G>T | ENSP00000403044.2:p.Arg163Ser | |
ENST00000476696.5:c.744G>T | ENSP00000483972.1:p.Arg248Ser | |
NM_012337.2:c.744G>T | NP_036469.2:p.Arg248Ser | |
NM_012337.3:c.744G>T MANE Select | NP_036469.2:p.Arg248Ser |