HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23212213C>T , CM000670.2:g.23212213C>T | GRCh38 |
NC_000008.10:g.23069726C>T , CM000670.1:g.23069726C>T | GRCh37 |
NC_000008.9:g.23125671C>T | NCBI36 |
NG_032107.1:g.17955G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.307-1G>A MANE Select | ENSP00000221132.3:n.307-1G>A | |
ENST00000221132.7:c.307-1G>A | ENSP00000221132.3:n.307-1G>A | |
ENST00000524158.5:c.-300-1G>A | ENSP00000428884.1:n.-300-1G>A | |
ENST00000613472.1:c.32-9554G>A | ENSP00000480778.1:n.32-9554G>A | |
NM_003844.3:c.307-1G>A | NP_003835.3:n.307-1G>A | |
NM_003844.4:c.307-1G>A MANE Select | NP_003835.3:n.307-1G>A |