HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60649314A= , CM000676.2:g.60649314A= | GRCh38 |
NC_000014.8:g.61116032A= , CM000676.1:g.61116032A= | GRCh37 |
NC_000014.7:g.60185785A= | NCBI36 |
NG_008231.1:g.5124T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645694.3:c.-125T= MANE Select | ENSP00000494686.1:n.-125T= | |
ENST00000247182.6:c.-125T= | ENSP00000247182.5:n.-125T= | |
ENST00000553535.2:n.248+2621T= | ||
ENST00000554986.2:c.42-2737T= | ENSP00000452700.2:n.42-2737T= | |
ENST00000555955.3:n.1197+2621T= | ||
NM_005982.3:c.-125T= | NP_005973.1:n.-125T= | |
XM_017021602.2:c.-125T= | XP_016877091.1:n.-125T= | |
NM_005982.4:c.-125T= MANE Select | NP_005973.1:n.-125T= |