HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315461A>G , CM000675.2:g.32315461A>G | GRCh38 |
NC_000013.10:g.32889598A>G , CM000675.1:g.32889598A>G | GRCh37 |
NC_000013.9:g.31787598A>G | NCBI36 |
NG_012772.3:g.4982A>G , LRG_293:g.4982A>G | |
NG_017006.1:g.1494T>C | |
NG_017006.2:g.4903T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000544455.6:c.-40+316A>G | ENSP00000439902.1:n.-40+316A>G | |
XM_011535203.1:c.-40+316A>G | XP_011533505.1:n.-40+316A>G |