HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869338G>A , CM000664.2:g.240869338G>A | GRCh38 |
NC_000002.11:g.241808755G>A , CM000664.1:g.241808755G>A | GRCh37 |
NC_000002.10:g.241457428G>A | NCBI36 |
NG_008005.1:g.5594G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.334G>A MANE Select | ENSP00000302620.3:p.Ala112Thr | |
ENST00000307503.3:c.334G>A | ENSP00000302620.3:p.Ala112Thr | |
ENST00000472436.1:n.354G>A | ||
NM_000030.2:c.334G>A | NP_000021.1:p.Ala112Thr | |
XR_924060.1:n.405+895C>T | ||
NM_000030.3:c.334G>A MANE Select | NP_000021.1:p.Ala112Thr |