HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18139602C= , CM000668.2:g.18139602C= | GRCh38 |
NC_000006.11:g.18139833C= , CM000668.1:g.18139833C= | GRCh37 |
NC_000006.10:g.18247812C= | NCBI36 |
NG_012137.2:g.20542G= | |
NG_012137.3:g.20542G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309983.5:c.419+63G= MANE Select | ENSP00000312304.4:n.419+63G= | |
ENST00000309983.4:c.419+63G= | ENSP00000312304.4:n.419+63G= | |
NM_000367.3:c.419+63G= | NP_000358.1:n.419+63G= | |
XM_011514839.1:c.419+63G= | XP_011513141.1:n.419+63G= | |
XM_011514840.1:c.350+63G= | XP_011513142.1:n.350+63G= | |
NM_000367.4:c.419+63G= | NP_000358.1:n.419+63G= | |
NM_001346817.1:c.419+63G= | NP_001333746.1:n.419+63G= | |
NM_001346818.1:c.419+63G= | NP_001333747.1:n.419+63G= | |
NM_000367.5:c.419+63G= MANE Select | NP_000358.1:n.419+63G= |