HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459110G>A , CM000668.2:g.49459110G>A | GRCh38 |
NC_000006.11:g.49426823G>A , CM000668.1:g.49426823G>A | GRCh37 |
NC_000006.10:g.49534782G>A | NCBI36 |
NG_007100.1:g.9030C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.357C>T MANE Select | ENSP00000274813.3:p.Ser119= | |
ENST00000274813.3:c.357C>T | ENSP00000274813.3:p.Ser119= | |
NM_000255.3:c.357C>T | NP_000246.2:p.Ser119= | |
XM_005249143.2:c.357C>T | XP_005249200.1:p.Ser119= | |
XM_005249143.3:c.357C>T | XP_005249200.1:p.Ser119= | |
NM_000255.4:c.357C>T MANE Select | NP_000246.2:p.Ser119= |