HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20454846A>G , CM000676.2:g.20454846A>G | GRCh38 |
NC_000014.8:g.20923005A>G , CM000676.1:g.20923005A>G | GRCh37 |
NC_000014.7:g.19992845A>G | NCBI36 |
NG_008718.1:g.4716A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206542.8:c.-163T>C | ENSP00000206542.4:n.-163T>C | |
ENST00000556252.1:n.208T>C | ||
ENST00000556439.1:n.244T>C | ||
NM_017807.3:c.-163T>C | NP_060277.1:n.-163T>C | |
XM_011536930.1:c.-224T>C | XP_011535232.1:n.-224T>C |