HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60645464G>T , CM000676.2:g.60645464G>T | GRCh38 |
NC_000014.8:g.61112182G>T , CM000676.1:g.61112182G>T | GRCh37 |
NC_000014.7:g.60181935G>T | NCBI36 |
NG_008231.1:g.8974C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000645694.3:c.*819C>A MANE Select | ENSP00000494686.1:n.*819C>A | |
ENST00000247182.6:c.*819C>A | ENSP00000247182.5:n.*819C>A | |
ENST00000553535.2:n.1362C>A | ||
ENST00000554986.2:c.*819C>A | ENSP00000452700.2:n.*819C>A | |
ENST00000555955.3:n.2311C>A | ||
NM_005982.3:c.*819C>A | NP_005973.1:n.*819C>A | |
XM_017021602.2:c.*1093C>A | XP_016877091.1:n.*1093C>A | |
NM_005982.4:c.*819C>A MANE Select | NP_005973.1:n.*819C>A |