HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107767766C>A , CM000669.2:g.107767766C>A | GRCh38 |
NC_000007.13:g.107408211C>A , CM000669.1:g.107408211C>A | GRCh37 |
NC_000007.12:g.107195447C>A | NCBI36 |
NG_008046.1:g.40468G>T , LRG_683:g.40468G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.2205G>T MANE Select | ENSP00000345873.5:p.Gln735His | |
ENST00000340010.9:c.2205G>T | ENSP00000345873.5:p.Gln735His | |
ENST00000379083.7:c.*1762G>T | ENSP00000368375.3:n.*1762G>T | |
NM_000111.2:c.2205G>T , LRG_683t1:c.2205G>T | NP_000102.1:p.Gln735His | |
XM_011515867.1:c.2205G>T | XP_011514169.1:p.Gln735His | |
NM_000111.3:c.2205G>T MANE Select | NP_000102.1:p.Gln735His |