HGVS | Genome Assembly |
---|---|
NC_000006.12:g.123218759C>T , CM000668.2:g.123218759C>T | GRCh38 |
NC_000006.11:g.123539904C>T , CM000668.1:g.123539904C>T | GRCh37 |
NC_000006.10:g.123581603C>T | NCBI36 |
NG_030438.1:g.423335G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334268.9:c.2051-19G>A MANE Select | ENSP00000333984.5:n.2051-19G>A | |
ENST00000334268.8:c.2051-19G>A | ENSP00000333984.5:n.2051-19G>A | |
NM_006073.3:c.2051-19G>A | NP_006064.2:n.2051-19G>A | |
XM_011535382.1:c.1970-19G>A | XP_011533684.1:n.1970-19G>A | |
NM_006073.4:c.2051-19G>A MANE Select | NP_006064.2:n.2051-19G>A |