HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451485T>C , CM000674.2:g.52451485T>C | GRCh38 |
NC_000012.11:g.52845269T>C , CM000674.1:g.52845269T>C | GRCh37 |
NC_000012.10:g.51131536T>C | NCBI36 |
NG_008299.1:g.5642A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252252.4:c.540+54A>G MANE Select | ENSP00000252252.3:n.540+54A>G | |
ENST00000252252.3:c.540+54A>G | ENSP00000252252.3:n.540+54A>G | |
NM_005555.3:c.540+54A>G | NP_005546.2:n.540+54A>G | |
NM_005555.4:c.540+54A>G MANE Select | NP_005546.2:n.540+54A>G |