HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256069G>A , CM000679.2:g.34256069G>A | GRCh38 |
NC_000017.10:g.32583088G>A , CM000679.1:g.32583088G>A | GRCh37 |
NC_000017.9:g.29607201G>A | NCBI36 |
NG_012123.1:g.5793G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.77-153G>A | ENSP00000462156.1:n.77-153G>A | |
ENST00000624362.2:n.785G>A | ||
ENST00000225831.4:c.77-153G>A MANE Select | ENSP00000225831.4:n.77-153G>A | |
ENST00000580907.5:c.77-153G>A | ENSP00000462156.1:n.77-153G>A | |
ENST00000624362.1:n.852G>A | ||
NM_002982.3:c.77-153G>A | NP_002973.1:n.77-153G>A | |
NM_002982.4:c.77-153G>A MANE Select | NP_002973.1:n.77-153G>A |