HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38076297C>T , CM000664.2:g.38076297C>T | GRCh38 |
NC_000002.11:g.38303439C>T , CM000664.1:g.38303439C>T | GRCh37 |
NC_000002.10:g.38156943C>T | NCBI36 |
NG_008386.2:g.4805G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000494864.1:c.-70-4987G>A | ENSP00000479876.1:n.-70-4987G>A | |
XM_011533236.1:c.911C>T | XP_011531538.1:p.Ala304Val |