HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81535274C>T , CM000665.2:g.81535274C>T | GRCh38 |
NC_000003.11:g.81584425C>T , CM000665.1:g.81584425C>T | GRCh37 |
NC_000003.10:g.81667115C>T | NCBI36 |
NG_011810.1:g.231527G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.1855G>A MANE Select | ENSP00000410833.2:p.Ala619Thr | |
ENST00000429644.6:c.1855G>A | ENSP00000410833.2:p.Ala619Thr | |
ENST00000484687.1:n.256G>A | ||
ENST00000489715.1:c.1732G>A | ENSP00000419638.1:p.Ala578Thr | |
NM_000158.3:c.1855G>A | NP_000149.3:p.Ala619Thr | |
NM_000158.4:c.1855G>A MANE Select | NP_000149.4:p.Ala619Thr |