HGVS | Genome Assembly |
---|---|
NC_000015.10:g.64162875T>G , CM000677.2:g.64162875T>G | GRCh38 |
NC_000015.9:g.64455074T>G , CM000677.1:g.64455074T>G | GRCh37 |
NC_000015.8:g.62242127T>G | NCBI36 |
NG_012979.1:g.5281A>C , LRG_10:g.5281A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300026.4:c.112A>C MANE Select | ENSP00000300026.4:p.Lys38Gln | |
ENST00000561048.2:n.145A>C | ||
ENST00000680158.1:c.112A>C | ENSP00000504873.1:p.Lys38Gln | |
ENST00000681397.1:c.112A>C | ENSP00000506584.1:p.Lys38Gln | |
ENST00000681658.1:c.30+82A>C | ENSP00000505431.1:n.30+82A>C | |
ENST00000300026.3:c.112A>C | ENSP00000300026.3:p.Lys38Gln | |
ENST00000558492.1:n.132A>C | ||
ENST00000561048.1:n.147A>C | ||
NM_000942.4:c.112A>C , LRG_10t1:c.112A>C | NP_000933.1:p.Lys38Gln | |
NM_000942.5:c.112A>C MANE Select | NP_000933.1:p.Lys38Gln |