HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304690G>A , CM000663.2:g.152304690G>A | GRCh38 |
NC_000001.10:g.152277166G>A , CM000663.1:g.152277166G>A | GRCh37 |
NC_000001.9:g.150543790G>A | NCBI36 |
NG_016190.1:g.25514C>T , LRG_1028:g.25514C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.10196C>T MANE Select | ENSP00000357789.1:p.Ala3399Val | |
ENST00000368799.1:c.10196C>T | ENSP00000357789.1:p.Ala3399Val | |
NM_002016.1:c.10196C>T , LRG_1028t1:c.10196C>T | NP_002007.1:p.Ala3399Val | |
XM_011509329.1:c.9109-857C>T | XP_011507631.1:n.9109-857C>T | |
NM_002016.2:c.10196C>T MANE Select | NP_002007.1:p.Ala3399Val |