HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887193G>A , CM000681.2:g.12887193G>A | GRCh38 |
NC_000019.9:g.12998007G>A , CM000681.1:g.12998007G>A | GRCh37 |
NC_000019.8:g.12859007G>A | NCBI36 |
NG_009292.1:g.1034G>A | |
NG_013087.1:g.5011C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.-53C>T MANE Select | ENSP00000264834.3:n.-53C>T | |
NM_006563.3:c.-53C>T | NP_006554.1:n.-53C>T | |
NM_006563.4:c.-53C>T | NP_006554.1:n.-53C>T | |
NM_006563.5:c.-53C>T MANE Select | NP_006554.1:n.-53C>T |