HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315465G>T , CM000675.2:g.32315465G>T | GRCh38 |
NC_000013.10:g.32889602G>T , CM000675.1:g.32889602G>T | GRCh37 |
NC_000013.9:g.31787602G>T | NCBI36 |
NG_012772.3:g.4986G>T , LRG_293:g.4986G>T | |
NG_017006.1:g.1490C>A | |
NG_017006.2:g.4899C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000544455.6:c.-40+320G>T | ENSP00000439902.1:n.-40+320G>T | |
XM_011535203.1:c.-40+320G>T | XP_011533505.1:n.-40+320G>T |