HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119164411G>T , CM000666.2:g.119164411G>T | GRCh38 |
NC_000004.11:g.120085566G>T , CM000666.1:g.120085566G>T | GRCh37 |
NC_000004.10:g.120305014G>T | NCBI36 |
NG_029747.1:g.33628G>T , LRG_396:g.33628G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307128.6:c.560+17G>T MANE Select | ENSP00000306997.6:n.560+17G>T | |
ENST00000307128.5:c.560+17G>T | ENSP00000306997.5:n.560+17G>T | |
NM_016599.4:c.560+17G>T , LRG_396t1:c.560+17G>T | NP_057683.1:n.560+17G>T | |
XM_006714234.2:c.560+17G>T | XP_006714297.1:n.560+17G>T | |
XM_006714234.4:c.560+17G>T | XP_006714297.1:n.560+17G>T | |
NM_016599.5:c.560+17G>T MANE Select | NP_057683.1:n.560+17G>T |