HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315226G>A , CM000675.2:g.32315226G>A | GRCh38 |
NC_000013.10:g.32889363G>A , CM000675.1:g.32889363G>A | GRCh37 |
NC_000013.9:g.31787363G>A | NCBI36 |
NG_012772.3:g.4747G>A , LRG_293:g.4747G>A | |
NG_017006.1:g.1729C>T | |
NG_017006.2:g.5138C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000533490.7:c.-390+89C>T (ZAR1L) MANE Select | ENSP00000437289.2:n.-390+89C>T | |
ENST00000544455.6:c.-40+81G>A (BRCA2) | ENSP00000439902.1:n.-40+81G>A | |
ENST00000533490.6:c.-390+89C>T (ZAR1L) | ENSP00000437289.2:n.-390+89C>T | |
XM_011535203.1:c.-40+81G>A (BRCA2) | XP_011533505.1:n.-40+81G>A | |
NM_001136571.2:c.-390+89C>T (ZAR1L) MANE Select | NP_001130043.1:n.-390+89C>T |