HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475086C= , CM000685.2:g.134475086C= | GRCh38 |
NC_000023.10:g.133609116C= , CM000685.1:g.133609116C= | GRCh37 |
NC_000023.9:g.133436782C= | NCBI36 |
NG_012329.1:g.19942C= | |
NG_012329.2:g.19942C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.135-95C= MANE Select | ENSP00000298556.7:n.135-95C= | |
ENST00000298556.7:c.135-95C= | ENSP00000298556.7:n.135-95C= | |
ENST00000462974.5:n.293-95C= | ||
ENST00000475720.1:n.93-95C= | ||
NM_000194.2:c.135-95C= | NP_000185.1:n.135-95C= | |
XM_011531328.1:c.153-95C= | XP_011529630.1:n.153-95C= | |
NM_000194.3:c.135-95C= MANE Select | NP_000185.1:n.135-95C= |