HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451407C>A , CM000674.2:g.52451407C>A | GRCh38 |
NC_000012.11:g.52845191C>A , CM000674.1:g.52845191C>A | GRCh37 |
NC_000012.10:g.51131458C>A | NCBI36 |
NG_008299.1:g.5720G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.540+132G>T MANE Select | ENSP00000252252.3:n.540+132G>T | |
ENST00000252252.3:c.540+132G>T | ENSP00000252252.3:n.540+132G>T | |
NM_005555.3:c.540+132G>T | NP_005546.2:n.540+132G>T | |
NM_005555.4:c.540+132G>T MANE Select | NP_005546.2:n.540+132G>T |