HGVS | Genome Assembly |
---|---|
NC_000001.11:g.31373135C>A , CM000663.2:g.31373135C>A | GRCh38 |
NC_000001.10:g.31845982C>A , CM000663.1:g.31845982C>A | GRCh37 |
NC_000001.9:g.31618569C>A | NCBI36 |
NG_047049.1:g.5149G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000482018.1:c.-27-94G>T | ENSP00000473982.1:n.-27-94G>T | |
XM_011541007.1:c.-121G>T | XP_011539309.1:n.-121G>T | |
NM_001320996.1:c.-121G>T | NP_001307925.1:n.-121G>T | |
NM_004102.4:c.-121G>T | NP_004093.1:n.-121G>T | |
XM_011541007.3:c.-121G>T | XP_011539309.1:n.-121G>T |