HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315479T>A , CM000675.2:g.32315479T>A | GRCh38 |
NC_000013.10:g.32889616T>A , CM000675.1:g.32889616T>A | GRCh37 |
NC_000013.9:g.31787616T>A | NCBI36 |
NG_012772.3:g.5000T>A , LRG_293:g.5000T>A | |
NG_017006.1:g.1476A>T | |
NG_017006.2:g.4885A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000544455.6:c.-40+334T>A | ENSP00000439902.1:n.-40+334T>A | |
ENST00000380152.7:c.-228T>A | ENSP00000369497.3:n.-228T>A | |
XM_011535203.1:c.-40+334T>A | XP_011533505.1:n.-40+334T>A | |
XM_011535204.1:c.-228T>A | XP_011533506.1:n.-228T>A | |
XM_011535205.1:c.-228T>A | XP_011533507.1:n.-228T>A |