HGVS | Genome Assembly |
---|---|
NC_000003.12:g.38464362C= , CM000665.2:g.38464362C= | GRCh38 |
NC_000003.11:g.38505853C= , CM000665.1:g.38505853C= | GRCh37 |
NC_000003.10:g.38480857C= | NCBI36 |
NG_011791.1:g.15064C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000352511.5:c.52+9988C= MANE Select | ENSP00000340361.3:n.52+9988C= | |
ENST00000352511.4:c.52+9988C= | ENSP00000340361.3:n.52+9988C= | |
ENST00000465020.5:n.56+9988C= | ||
NM_001106.3:c.52+9988C= | NP_001097.2:n.52+9988C= | |
XM_005265583.2:c.115+4673C= | XP_005265640.1:n.115+4673C= | |
XM_005265583.3:c.115+4673C= | XP_005265640.1:n.115+4673C= | |
XM_017007514.1:c.94+4694C= | XP_016863003.1:n.94+4694C= | |
XM_017007515.2:c.70+9678C= | XP_016863004.1:n.70+9678C= | |
NM_001106.4:c.52+9988C= MANE Select | NP_001097.2:n.52+9988C= |