HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451379A>G , CM000674.2:g.52451379A>G | GRCh38 |
NC_000012.11:g.52845163A>G , CM000674.1:g.52845163A>G | GRCh37 |
NC_000012.10:g.51131430A>G | NCBI36 |
NG_008299.1:g.5748T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.540+160T>C MANE Select | ENSP00000252252.3:n.540+160T>C | |
ENST00000252252.3:c.540+160T>C | ENSP00000252252.3:n.540+160T>C | |
NM_005555.3:c.540+160T>C | NP_005546.2:n.540+160T>C | |
NM_005555.4:c.540+160T>C MANE Select | NP_005546.2:n.540+160T>C |