HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475152C>A , CM000685.2:g.134475152C>A | GRCh38 |
NC_000023.10:g.133609182C>A , CM000685.1:g.133609182C>A | GRCh37 |
NC_000023.9:g.133436848C>A | NCBI36 |
NG_012329.1:g.20008C>A | |
NG_012329.2:g.20008C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.135-29C>A MANE Select | ENSP00000298556.7:n.135-29C>A | |
ENST00000298556.7:c.135-29C>A | ENSP00000298556.7:n.135-29C>A | |
ENST00000462974.5:n.293-29C>A | ||
ENST00000475720.1:n.93-29C>A | ||
NM_000194.2:c.135-29C>A | NP_000185.1:n.135-29C>A | |
XM_011531328.1:c.153-29C>A | XP_011529630.1:n.153-29C>A | |
NM_000194.3:c.135-29C>A MANE Select | NP_000185.1:n.135-29C>A |