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