HGVS | Genome Assembly |
---|---|
NC_000001.11:g.31373126A>G , CM000663.2:g.31373126A>G | GRCh38 |
NC_000001.10:g.31845973A>G , CM000663.1:g.31845973A>G | GRCh37 |
NC_000001.9:g.31618560A>G | NCBI36 |
NG_047049.1:g.5158T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000482018.1:c.-27-85T>C | ENSP00000473982.1:n.-27-85T>C | |
XM_011541007.1:c.-112T>C | XP_011539309.1:n.-112T>C | |
NM_001320996.1:c.-112T>C | NP_001307925.1:n.-112T>C | |
NM_004102.4:c.-112T>C | NP_004093.1:n.-112T>C | |
XM_011541007.3:c.-112T>C | XP_011539309.1:n.-112T>C |