HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107767765C>A , CM000669.2:g.107767765C>A | GRCh38 |
NC_000007.13:g.107408210C>A , CM000669.1:g.107408210C>A | GRCh37 |
NC_000007.12:g.107195446C>A | NCBI36 |
NG_008046.1:g.40469G>T , LRG_683:g.40469G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.2205+1G>T MANE Select | ENSP00000345873.5:n.2205+1G>T | |
ENST00000340010.9:c.2205+1G>T | ENSP00000345873.5:n.2205+1G>T | |
ENST00000379083.7:c.*1762+1G>T | ENSP00000368375.3:n.*1762+1G>T | |
NM_000111.2:c.2205+1G>T , LRG_683t1:c.2205+1G>T | NP_000102.1:n.2205+1G>T | |
XM_011515867.1:c.2205+1G>T | XP_011514169.1:n.2205+1G>T | |
NM_000111.3:c.2205+1G>T MANE Select | NP_000102.1:n.2205+1G>T |