HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6248357A>T , CM000668.2:g.6248357A>T | GRCh38 |
NC_000006.11:g.6248590A>T , CM000668.1:g.6248590A>T | GRCh37 |
NC_000006.10:g.6193589A>T | NCBI36 |
NG_008107.1:g.77335T>A , LRG_549:g.77335T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.753T>A MANE Select | ENSP00000264870.3:p.Ser251= | |
ENST00000264870.7:c.753T>A | ENSP00000264870.3:p.Ser251= | |
NM_000129.3:c.753T>A , LRG_549t1:c.753T>A | NP_000120.2:p.Ser251= | |
XM_006715010.2:c.753T>A | XP_006715073.1:p.Ser251= | |
XM_011514342.1:c.915T>A | XP_011512644.1:p.Ser305= | |
NM_000129.4:c.753T>A MANE Select | NP_000120.2:p.Ser251= |