HGVS | Genome Assembly |
---|---|
NC_000007.14:g.148147468T= , CM000669.2:g.148147468T= | GRCh38 |
NC_000007.13:g.147844560T= , CM000669.1:g.147844560T= | GRCh37 |
NC_000007.12:g.147475493T= | NCBI36 |
NG_007092.2:g.2036108T= | |
NG_007092.3:g.2036468T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.2555-23T= MANE Select | ENSP00000354778.3:n.2555-23T= | |
ENST00000636870.1:n.2417-23T= | ||
ENST00000637020.1:n.373-23T= | ||
ENST00000361727.7:c.2555-23T= | ENSP00000354778.3:n.2555-23T= | |
ENST00000627772.2:n.728-23T= | ||
ENST00000628930.2:c.-269-23T= | ENSP00000487516.1:n.-269-23T= | |
ENST00000631199.2:n.284-23T= | ||
NM_014141.5:c.2555-23T= | NP_054860.1:n.2555-23T= | |
XM_006715919.1:c.1043-23T= | XP_006715982.1:n.1043-23T= | |
XR_928095.1:n.214+7709A= | ||
NM_014141.6:c.2555-23T= MANE Select | NP_054860.1:n.2555-23T= |