HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75280415G>T , CM000676.2:g.75280415G>T | GRCh38 |
NC_000014.8:g.75747118G>T , CM000676.1:g.75747118G>T | GRCh37 |
NC_000014.7:g.74816871G>T | NCBI36 |
NG_029673.1:g.6638G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303562.9:c.394-145G>T MANE Select | ENSP00000306245.4:n.394-145G>T | |
ENST00000303562.8:c.394-145G>T | ENSP00000306245.4:n.394-145G>T | |
ENST00000535987.5:c.393+287G>T | ENSP00000442268.1:n.393+287G>T | |
ENST00000554212.5:c.365-145G>T | ENSP00000452443.1:n.365-145G>T | |
ENST00000555242.1:c.394-145G>T | ENSP00000452386.1:n.394-145G>T | |
ENST00000555347.1:c.-196G>T | ENSP00000450886.1:n.-196G>T | |
ENST00000555672.1:c.51+287G>T | ENSP00000452440.1:n.51+287G>T | |
ENST00000555686.1:c.52-145G>T | ENSP00000452590.1:n.52-145G>T | |
ENST00000557139.1:c.152-155G>T | ENSP00000451786.1:n.152-155G>T | |
NM_005252.3:c.394-145G>T | NP_005243.1:n.394-145G>T | |
NM_005252.4:c.394-145G>T MANE Select | NP_005243.1:n.394-145G>T |