HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612195C>A , CM000679.2:g.41612195C>A | GRCh38 |
NC_000017.10:g.39768447C>A , CM000679.1:g.39768447C>A | GRCh37 |
NC_000017.9:g.37021973C>A | NCBI36 |
NG_008301.1:g.5633G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.494G>T MANE Select | ENSP00000301653.3:p.Ser165Ile | |
ENST00000301653.8:c.494G>T | ENSP00000301653.3:p.Ser165Ile | |
ENST00000588319.1:n.571G>T | ||
ENST00000593067.1:c.-221G>T | ENSP00000467124.1:n.-221G>T | |
NM_005557.3:c.494G>T | NP_005548.2:p.Ser165Ile | |
NM_005557.4:c.494G>T MANE Select | NP_005548.2:p.Ser165Ile |