HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315486C= , CM000675.2:g.32315486C= | GRCh38 |
NC_000013.10:g.32889623C= , CM000675.1:g.32889623C= | GRCh37 |
NC_000013.9:g.31787623C= | NCBI36 |
NG_012772.3:g.5007C= , LRG_293:g.5007C= | |
NG_017006.1:g.1469G= | |
NG_017006.2:g.4878G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000544455.6:c.-40+341C= | ENSP00000439902.1:n.-40+341C= | |
ENST00000380152.7:c.-221C= | ENSP00000369497.3:n.-221C= | |
ENST00000544455.5:c.-221C= | ENSP00000439902.1:n.-221C= | |
NM_000059.3:c.-221C= , LRG_293t1:c.-221C= | NP_000050.2:n.-221C= | |
XM_011535203.1:c.-40+341C= | XP_011533505.1:n.-40+341C= | |
XM_011535204.1:c.-221C= | XP_011533506.1:n.-221C= | |
XM_011535205.1:c.-221C= | XP_011533507.1:n.-221C= |