HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731800G= , CM000685.2:g.8731800G= | GRCh38 |
NC_000023.10:g.8699841G= , CM000685.1:g.8699841G= | GRCh37 |
NC_000023.9:g.8659841G= | NCBI36 |
NG_007088.1:g.5387C= | |
NG_007088.2:g.5387C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.207+30C= MANE Select | ENSP00000262648.3:n.207+30C= | |
ENST00000262648.7:c.207+30C= | ENSP00000262648.3:n.207+30C= | |
ENST00000619786.1:c.204+30C= | ENSP00000478734.1:n.204+30C= | |
NM_000216.2:c.207+30C= | NP_000207.2:n.207+30C= | |
XM_005274501.3:c.207+30C= | XP_005274558.1:n.207+30C= | |
NM_000216.3:c.207+30C= | NP_000207.2:n.207+30C= | |
XM_005274501.4:c.207+30C= | XP_005274558.1:n.207+30C= | |
NM_000216.4:c.207+30C= MANE Select | NP_000207.2:n.207+30C= |