HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38356516G>A , CM000677.2:g.38356516G>A | GRCh38 |
NC_000015.9:g.38648717G>A , CM000677.1:g.38648717G>A | GRCh37 |
NC_000015.8:g.36436009G>A | NCBI36 |
NG_008980.1:g.108666G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299084.9:c.*4852G>A MANE Select | ENSP00000299084.4:n.*4852G>A | |
ENST00000299084.8:c.*4852G>A | ENSP00000299084.4:n.*4852G>A | |
NM_152594.2:c.*4852G>A | NP_689807.1:n.*4852G>A | |
XM_005254202.3:c.*4852G>A | XP_005254259.1:n.*4852G>A | |
XM_011521289.3:c.*4852G>A | XP_011519591.1:n.*4852G>A | |
NM_152594.3:c.*4852G>A MANE Select | NP_689807.1:n.*4852G>A |