HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81535284A>G , CM000665.2:g.81535284A>G | GRCh38 |
NC_000003.11:g.81584435A>G , CM000665.1:g.81584435A>G | GRCh37 |
NC_000003.10:g.81667125A>G | NCBI36 |
NG_011810.1:g.231517T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.1845T>C MANE Select | ENSP00000410833.2:p.Ala615= | |
ENST00000429644.6:c.1845T>C | ENSP00000410833.2:p.Ala615= | |
ENST00000484687.1:n.246T>C | ||
ENST00000489715.1:c.1722T>C | ENSP00000419638.1:p.Ala574= | |
NM_000158.3:c.1845T>C | NP_000149.3:p.Ala615= | |
NM_000158.4:c.1845T>C MANE Select | NP_000149.4:p.Ala615= |