HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451645A>C , CM000674.2:g.52451645A>C | GRCh38 |
NC_000012.11:g.52845429A>C , CM000674.1:g.52845429A>C | GRCh37 |
NC_000012.10:g.51131696A>C | NCBI36 |
NG_008299.1:g.5482T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.434T>G MANE Select | ENSP00000252252.3:p.Leu145Arg | |
ENST00000252252.3:c.434T>G | ENSP00000252252.3:p.Leu145Arg | |
NM_005555.3:c.434T>G | NP_005546.2:p.Leu145Arg | |
NM_005555.4:c.434T>G MANE Select | NP_005546.2:p.Leu145Arg |