HGVS | Genome Assembly |
---|---|
NC_000010.11:g.74111911G>A , CM000672.2:g.74111911G>A | GRCh38 |
NC_000010.10:g.75871669G>A , CM000672.1:g.75871669G>A | GRCh37 |
NC_000010.9:g.75541675G>A | NCBI36 |
NG_008868.1:g.118798G>A , LRG_383:g.118798G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000211998.10:c.2748G>A MANE Select | ENSP00000211998.5:p.Pro916= | |
ENST00000211998.8:c.2748G>A | ENSP00000211998.4:p.Pro916= | |
ENST00000372755.7:c.2746-2273G>A | ENSP00000361841.3:n.2746-2273G>A | |
ENST00000436396.1:c.1764G>A | ENSP00000415489.1:p.Pro588= | |
ENST00000623461.3:n.5549-2273G>A | ||
ENST00000624354.3:c.*2503G>A | ENSP00000485551.1:n.*2503G>A | |
NM_003373.3:c.2746-2273G>A | NP_003364.1:n.2746-2273G>A | |
NM_014000.2:c.2748G>A , LRG_383t1:c.2748G>A | NP_054706.1:p.Pro916= | |
XM_005270142.1:c.2751G>A | XP_005270199.1:p.Pro917= | |
XM_005270143.1:c.2749-2273G>A | XP_005270200.1:n.2749-2273G>A | |
NM_003373.4:c.2746-2273G>A | NP_003364.1:n.2746-2273G>A | |
NM_014000.3:c.2748G>A MANE Select | NP_054706.1:p.Pro916= |