HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116781660G= , CM000673.2:g.116781660G= | GRCh38 |
NC_000011.9:g.116652376G= , CM000673.1:g.116652376G= | GRCh37 |
NC_000011.8:g.116157586G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.1179+498C= MANE Select | ENSP00000227322.3:n.1179+498C= | |
ENST00000227322.7:c.1179+498C= | ENSP00000227322.3:n.1179+498C= | |
ENST00000429220.5:c.958+498C= | ||
ENST00000444935.5:c.1091+1259C= | ||
NM_003904.3:c.1179+498C= | NP_003895.1:n.1179+498C= | |
NM_001317086.1:c.1017+498C= | NP_001304015.1:n.1017+498C= | |
NM_003904.4:c.1179+498C= | NP_003895.1:n.1179+498C= | |
XR_001748023.2:n.2507+498C= | ||
NM_003904.5:c.1179+498C= MANE Select | NP_003895.1:n.1179+498C= | |
NM_001317086.2:c.1017+498C= | NP_001304015.1:n.1017+498C= |