HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23422140G= , CM000676.2:g.23422140G= | GRCh38 |
NC_000014.8:g.23891349G= , CM000676.1:g.23891349G= | GRCh37 |
NC_000014.7:g.22961189G= | NCBI36 |
NG_007884.1:g.18522C= , LRG_384:g.18522C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3245+40C= MANE Select | ENSP00000347507.3:n.3245+40C= | |
ENST00000355349.3:c.3245+40C= | ENSP00000347507.3:n.3245+40C= | |
NM_000257.3:c.3245+40C= | NP_000248.2:n.3245+40C= | |
XR_245686.3:n.3351+40C= | ||
XM_017021340.1:c.3245+40C= | XP_016876829.1:n.3245+40C= | |
NM_000257.4:c.3245+40C= MANE Select | NP_000248.2:n.3245+40C= |