HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31663844C>T , CM000683.2:g.31663844C>T | GRCh38 |
NC_000021.8:g.33036157C>T , CM000683.1:g.33036157C>T | GRCh37 |
NC_000021.7:g.31958028C>T | NCBI36 |
NG_008689.1:g.9223C>T , LRG_652:g.9223C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.127C>T MANE Select | ENSP00000270142.7:p.Leu43= | |
ENST00000270142.10:c.127C>T | ENSP00000270142.6:p.Leu43= | |
ENST00000389995.4:c.70C>T | ENSP00000374645.4:p.Leu24= | |
ENST00000470944.1:n.1055C>T | ||
ENST00000476106.5:n.390C>T | ||
NM_000454.4:c.127C>T , LRG_652t1:c.127C>T | NP_000445.1:p.Leu43= | |
NM_000454.5:c.127C>T MANE Select | NP_000445.1:p.Leu43= |