HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20192782C>T , CM000675.2:g.20192782C>T | GRCh38 |
NC_000013.10:g.20766921C>T , CM000675.1:g.20766921C>T | GRCh37 |
NC_000013.9:g.19664921C>T | NCBI36 |
NG_008358.1:g.5194G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382848.5:c.-23+1G>A MANE Select | ENSP00000372299.4:n.-23+1G>A | |
ENST00000382848.4:c.-23+1G>A | ENSP00000372299.4:n.-23+1G>A | |
NM_004004.5:c.-23+1G>A | NP_003995.2:n.-23+1G>A | |
NM_004004.6:c.-23+1G>A MANE Select | NP_003995.2:n.-23+1G>A |