HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451676T>G , CM000674.2:g.52451676T>G | GRCh38 |
NC_000012.11:g.52845460T>G , CM000674.1:g.52845460T>G | GRCh37 |
NC_000012.10:g.51131727T>G | NCBI36 |
NG_008299.1:g.5451A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.403A>C MANE Select | ENSP00000252252.3:p.Ile135Leu | |
ENST00000252252.3:c.403A>C | ENSP00000252252.3:p.Ile135Leu | |
NM_005555.3:c.403A>C | NP_005546.2:p.Ile135Leu | |
NM_005555.4:c.403A>C MANE Select | NP_005546.2:p.Ile135Leu |