HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38356546A>C , CM000677.2:g.38356546A>C | GRCh38 |
NC_000015.9:g.38648747A>C , CM000677.1:g.38648747A>C | GRCh37 |
NC_000015.8:g.36436039A>C | NCBI36 |
NG_008980.1:g.108696A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299084.9:c.*4882A>C MANE Select | ENSP00000299084.4:n.*4882A>C | |
ENST00000299084.8:c.*4882A>C | ENSP00000299084.4:n.*4882A>C | |
NM_152594.2:c.*4882A>C | NP_689807.1:n.*4882A>C | |
XM_005254202.3:c.*4882A>C | XP_005254259.1:n.*4882A>C | |
XM_011521289.3:c.*4882A>C | XP_011519591.1:n.*4882A>C | |
NM_152594.3:c.*4882A>C MANE Select | NP_689807.1:n.*4882A>C |