HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134486397A= , CM000685.2:g.134486397A= | GRCh38 |
NC_000023.10:g.133620427A= , CM000685.1:g.133620427A= | GRCh37 |
NC_000023.9:g.133448093A= | NCBI36 |
NG_012329.1:g.31253A= | |
NG_012329.2:g.31253A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.319-68A= MANE Select | ENSP00000298556.7:n.319-68A= | |
ENST00000298556.7:c.319-68A= | ENSP00000298556.7:n.319-68A= | |
ENST00000462974.5:n.477-68A= | ||
ENST00000475720.1:n.277-68A= | ||
NM_000194.2:c.319-68A= | NP_000185.1:n.319-68A= | |
XM_011531328.1:c.337-68A= | XP_011529630.1:n.337-68A= | |
NM_000194.3:c.319-68A= MANE Select | NP_000185.1:n.319-68A= |