HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23429181C= , CM000676.2:g.23429181C= | GRCh38 |
NC_000014.8:g.23898390C= , CM000676.1:g.23898390C= | GRCh37 |
NC_000014.7:g.22968230C= | NCBI36 |
NG_007884.1:g.11481G= , LRG_384:g.11481G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.1257+48G= MANE Select | ENSP00000347507.3:n.1257+48G= | |
ENST00000355349.3:c.1257+48G= | ENSP00000347507.3:n.1257+48G= | |
NM_000257.3:c.1257+48G= | NP_000248.2:n.1257+48G= | |
XR_245686.3:n.1363+48G= | ||
XM_017021340.1:c.1257+48G= | XP_016876829.1:n.1257+48G= | |
NM_000257.4:c.1257+48G= MANE Select | NP_000248.2:n.1257+48G= |