HGVS | Genome Assembly |
---|---|
NC_000011.10:g.22624963T>A , CM000673.2:g.22624963T>A | GRCh38 |
NC_000011.9:g.22646509T>A , CM000673.1:g.22646509T>A | GRCh37 |
NC_000011.8:g.22603085T>A | NCBI36 |
NG_007425.1:g.5879A>T , LRG_527:g.5879A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327470.6:c.848A>T MANE Select | ENSP00000330875.3:p.Gln283Leu | |
ENST00000327470.4:c.848A>T | ENSP00000330875.3:p.Gln283Leu | |
NM_022725.3:c.848A>T , LRG_527t1:c.848A>T | NP_073562.1:p.Gln283Leu | |
NM_022725.4:c.848A>T MANE Select | NP_073562.1:p.Gln283Leu |