HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38146904C>T , CM000670.2:g.38146904C>T | GRCh38 |
NC_000008.10:g.38004422C>T , CM000670.1:g.38004422C>T | GRCh37 |
NC_000008.9:g.38123579C>T | NCBI36 |
NG_011827.1:g.9179G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.307-457G>A MANE Select | ENSP00000276449.3:n.307-457G>A | |
ENST00000276449.8:c.307-457G>A | ENSP00000276449.3:n.307-457G>A | |
ENST00000520114.1:n.794-457G>A | ||
ENST00000521236.1:c.61-457G>A | ENSP00000430030.1:n.61-457G>A | |
ENST00000522050.1:c.243-457G>A | ||
NM_000349.2:c.307-457G>A | NP_000340.2:n.307-457G>A | |
XM_006716392.1:c.307-457G>A | XP_006716455.1:n.307-457G>A | |
NM_000349.3:c.307-457G>A MANE Select | NP_000340.2:n.307-457G>A |