HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313936C>T , CM000672.2:g.30313936C>T | GRCh38 |
NC_000010.10:g.30602865C>T , CM000672.1:g.30602865C>T | GRCh37 |
NC_000010.9:g.30642871C>T | NCBI36 |
NG_028096.1:g.40403G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263063.9:c.1422G>A MANE Select | ENSP00000263063.3:p.Leu474= | |
ENST00000263063.8:c.1422G>A | ENSP00000263063.3:p.Leu474= | |
ENST00000488290.5:n.3177G>A | ||
NM_018109.3:c.1422G>A | NP_060579.3:p.Leu474= | |
NM_018109.4:c.1422G>A MANE Select | NP_060579.3:p.Leu474= |