HGVS | Genome Assembly |
---|---|
NC_000002.12:g.182838616G>T , CM000664.2:g.182838616G>T | GRCh38 |
NC_000002.11:g.183703344G>T , CM000664.1:g.183703344G>T | GRCh37 |
NC_000002.10:g.183411589G>T | NCBI36 |
NG_017197.1:g.33155C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295113.5:c.593-3C>A MANE Select | ENSP00000295113.4:n.593-3C>A | |
ENST00000295113.4:c.593-3C>A | ENSP00000295113.4:n.593-3C>A | |
NM_001463.3:c.593-3C>A | NP_001454.2:n.593-3C>A | |
NM_001463.4:c.593-3C>A MANE Select | NP_001454.2:n.593-3C>A |