HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050250A= , CM000664.2:g.189050250A= | GRCh38 |
NC_000002.11:g.189914976A= , CM000664.1:g.189914976A= | GRCh37 |
NC_000002.10:g.189623221A= | NCBI36 |
NG_011799.1:g.134630T= | |
NG_011799.2:g.134630T= | |
NG_011799.3:g.180052T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3039+319T= MANE Select | ENSP00000364000.3:n.3039+319T= | |
ENST00000374866.7:c.3039+319T= | ENSP00000364000.3:n.3039+319T= | |
ENST00000618828.1:c.1878+319T= | ENSP00000482184.1:n.1878+319T= | |
NM_000393.3:c.3039+319T= | NP_000384.2:n.3039+319T= | |
XM_011510573.1:c.2901+319T= | XP_011508875.1:n.2901+319T= | |
NM_000393.4:c.3039+319T= | NP_000384.2:n.3039+319T= | |
XM_011510573.3:c.2901+319T= | XP_011508875.1:n.2901+319T= | |
NM_000393.5:c.3039+319T= MANE Select | NP_000384.2:n.3039+319T= |