HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35848118G>A , CM000681.2:g.35848118G>A | GRCh38 |
NC_000019.9:g.36339020G>A , CM000681.1:g.36339020G>A | GRCh37 |
NC_000019.8:g.41030860G>A | NCBI36 |
NG_013356.2:g.26170C>T , LRG_693:g.26170C>T | |
NG_051206.1:g.1484G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.1363C>T MANE Select | ENSP00000368190.4:p.Leu455Phe | |
ENST00000353632.6:c.1363C>T | ENSP00000343634.5:p.Leu455Phe | |
ENST00000378910.9:c.1363C>T | ENSP00000368190.4:p.Leu455Phe | |
ENST00000592132.1:n.370C>T | ||
NM_004646.3:c.1363C>T , LRG_693t1:c.1363C>T | NP_004637.1:p.Leu455Phe | |
NM_004646.4:c.1363C>T MANE Select | NP_004637.1:p.Leu455Phe |