HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116781666G= , CM000673.2:g.116781666G= | GRCh38 |
NC_000011.9:g.116652382G= , CM000673.1:g.116652382G= | GRCh37 |
NC_000011.8:g.116157592G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.1179+492C= MANE Select | ENSP00000227322.3:n.1179+492C= | |
ENST00000227322.7:c.1179+492C= | ENSP00000227322.3:n.1179+492C= | |
ENST00000429220.5:c.958+492C= | ||
ENST00000444935.5:c.1091+1253C= | ||
NM_003904.3:c.1179+492C= | NP_003895.1:n.1179+492C= | |
NM_001317086.1:c.1017+492C= | NP_001304015.1:n.1017+492C= | |
NM_003904.4:c.1179+492C= | NP_003895.1:n.1179+492C= | |
XR_001748023.2:n.2507+492C= | ||
NM_003904.5:c.1179+492C= MANE Select | NP_003895.1:n.1179+492C= | |
NM_001317086.2:c.1017+492C= | NP_001304015.1:n.1017+492C= |