HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572858G= , CM000685.2:g.47572858G= | GRCh38 |
NC_000023.10:g.47432257G= , CM000685.1:g.47432257G= | GRCh37 |
NC_000023.9:g.47317201G= | NCBI36 |
NG_008437.1:g.52000C= | |
NG_016339.1:g.16742G= | |
NG_016339.2:g.16742G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.*6C= MANE Select | ENSP00000295987.7:n.*6C= | |
ENST00000340666.5:c.*76C= | ENSP00000343206.4:n.*76C= | |
ENST00000640721.1:c.174C= | ENSP00000492857.1:n.174C= | |
ENST00000295987.11:c.*6C= | ENSP00000295987.7:n.*6C= | |
ENST00000340666.4:c.*76C= | ENSP00000343206.4:n.*76C= | |
NM_006950.3:c.*6C= MANE Select | NP_008881.2:n.*6C= | |
NM_133499.2:c.*76C= | NP_598006.1:n.*76C= |