HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887146G>C , CM000681.2:g.12887146G>C | GRCh38 |
NC_000019.9:g.12997960G>C , CM000681.1:g.12997960G>C | GRCh37 |
NC_000019.8:g.12858960G>C | NCBI36 |
NG_009292.1:g.987G>C | |
NG_013087.1:g.5058C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.-6C>G MANE Select | ENSP00000264834.3:n.-6C>G | |
ENST00000264834.4:c.-6C>G | ENSP00000264834.3:n.-6C>G | |
NM_006563.3:c.-6C>G | NP_006554.1:n.-6C>G | |
NM_006563.4:c.-6C>G | NP_006554.1:n.-6C>G | |
NM_006563.5:c.-6C>G MANE Select | NP_006554.1:n.-6C>G |