HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38076402G>T , CM000664.2:g.38076402G>T | GRCh38 |
NC_000002.11:g.38303544G>T , CM000664.1:g.38303544G>T | GRCh37 |
NC_000002.10:g.38157048G>T | NCBI36 |
NG_008386.2:g.4700C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000494864.1:c.-70-5092C>A | ENSP00000479876.1:n.-70-5092C>A | |
XM_011533236.1:c.1016G>T | XP_011531538.1:p.Cys339Phe |