HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107767768G>T , CM000669.2:g.107767768G>T | GRCh38 |
NC_000007.13:g.107408213G>T , CM000669.1:g.107408213G>T | GRCh37 |
NC_000007.12:g.107195449G>T | NCBI36 |
NG_008046.1:g.40466C>A , LRG_683:g.40466C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.2203C>A MANE Select | ENSP00000345873.5:p.Gln735Lys | |
ENST00000340010.9:c.2203C>A | ENSP00000345873.5:p.Gln735Lys | |
ENST00000379083.7:c.*1760C>A | ENSP00000368375.3:n.*1760C>A | |
NM_000111.2:c.2203C>A , LRG_683t1:c.2203C>A | NP_000102.1:p.Gln735Lys | |
XM_011515867.1:c.2203C>A | XP_011514169.1:p.Gln735Lys | |
NM_000111.3:c.2203C>A MANE Select | NP_000102.1:p.Gln735Lys |