HGVS | Genome Assembly |
---|---|
NC_000002.12:g.86030307G>T , CM000664.2:g.86030307G>T | GRCh38 |
NC_000002.11:g.86257430G>T , CM000664.1:g.86257430G>T | GRCh37 |
NC_000002.10:g.86110941G>T | NCBI36 |
NG_050742.2:g.80849C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263857.11:c.4668C>A MANE Select | ENSP00000263857.6:p.Thr1556= | |
ENST00000263857.10:c.4668C>A | ENSP00000263857.6:p.Thr1556= | |
ENST00000409681.1:c.4485C>A | ENSP00000386300.1:p.Thr1495= | |
NM_015425.3:c.4668C>A | NP_056240.2:p.Thr1556= | |
XM_006711983.2:c.4344C>A | XP_006712046.1:p.Thr1448= | |
NM_015425.5:c.4668C>A | NP_056240.2:p.Thr1556= | |
NM_015425.6:c.4668C>A MANE Select | NP_056240.2:p.Thr1556= |