HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147128901T= , CM000669.2:g.147128901T= | GRCh38 |
NC_000007.13:g.146825993T= , CM000669.1:g.146825993T= | GRCh37 |
NC_000007.12:g.146456926T= | NCBI36 |
NG_007092.2:g.1017541T= | |
NG_007092.3:g.1017901T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1083+65T= MANE Select | ENSP00000354778.3:n.1083+65T= | |
ENST00000636561.1:n.986+65T= | ||
ENST00000636870.1:n.945+65T= | ||
ENST00000637150.1:n.1012+65T= | ||
ENST00000637694.1:n.986+65T= | ||
ENST00000637825.1:n.566+65T= | ||
ENST00000638117.1:n.986+65T= | ||
ENST00000361727.7:c.1083+65T= | ENSP00000354778.3:n.1083+65T= | |
NM_014141.5:c.1083+65T= | NP_054860.1:n.1083+65T= | |
XM_017011950.2:c.1083+65T= | XP_016867439.1:n.1083+65T= | |
NM_014141.6:c.1083+65T= MANE Select | NP_054860.1:n.1083+65T= |