HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948980G>T , CM000679.2:g.16948980G>T | GRCh38 |
NC_000017.10:g.16852294G>T , CM000679.1:g.16852294G>T | GRCh37 |
NC_000017.9:g.16793019G>T | NCBI36 |
NG_007281.1:g.28109C>A , LRG_120:g.28109C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.203C>A MANE Select | ENSP00000261652.2:p.Ser68Ter | |
ENST00000261652.6:c.203C>A | ENSP00000261652.2:p.Ser68Ter | |
ENST00000579315.5:c.203C>A | ENSP00000464069.1:p.Ser68Ter | |
ENST00000581616.2:n.206C>A | ||
ENST00000582931.5:n.107C>A | ||
ENST00000583789.1:c.65C>A | ENSP00000462952.1:p.Ser22Ter | |
ENST00000584950.5:c.65C>A | ENSP00000463582.1:p.Ser22Ter | |
NM_012452.2:c.203C>A , LRG_120t1:c.203C>A | NP_036584.1:p.Ser68Ter | |
NM_012452.3:c.203C>A MANE Select | NP_036584.1:p.Ser68Ter |