HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20454860C>A , CM000676.2:g.20454860C>A | GRCh38 |
NC_000014.8:g.20923019C>A , CM000676.1:g.20923019C>A | GRCh37 |
NC_000014.7:g.19992859C>A | NCBI36 |
NG_008718.1:g.4730C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206542.8:c.-177G>T | ENSP00000206542.4:n.-177G>T | |
ENST00000556252.1:n.194G>T | ||
ENST00000556439.1:n.230G>T | ||
NM_017807.3:c.-177G>T | NP_060277.1:n.-177G>T | |
XM_011536930.1:c.-238G>T | XP_011535232.1:n.-238G>T |