HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887195G>T , CM000681.2:g.12887195G>T | GRCh38 |
NC_000019.9:g.12998009G>T , CM000681.1:g.12998009G>T | GRCh37 |
NC_000019.8:g.12859009G>T | NCBI36 |
NG_009292.1:g.1036G>T | |
NG_013087.1:g.5009C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.-55C>A MANE Select | ENSP00000264834.3:n.-55C>A | |
NM_006563.3:c.-55C>A | NP_006554.1:n.-55C>A | |
NM_006563.4:c.-55C>A | NP_006554.1:n.-55C>A | |
NM_006563.5:c.-55C>A MANE Select | NP_006554.1:n.-55C>A |