HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423072C>T , CM000669.2:g.94423072C>T | GRCh38 |
NC_000007.13:g.94052384C>T , CM000669.1:g.94052384C>T | GRCh37 |
NC_000007.12:g.93890320C>T | NCBI36 |
NG_007405.1:g.33512C>T , LRG_2:g.33512C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.2519C>T MANE Select | ENSP00000297268.6:p.Pro840Leu | |
ENST00000297268.10:c.2519C>T | ENSP00000297268.6:p.Pro840Leu | |
ENST00000481570.5:n.602C>T | ||
ENST00000497316.5:n.916C>T | ||
ENST00000620463.1:c.2513C>T | ENSP00000477719.1:p.Pro838Leu | |
NM_000089.3:c.2519C>T , LRG_2t1:c.2519C>T | NP_000080.2:p.Pro840Leu | |
NM_000089.4:c.2519C>T MANE Select | NP_000080.2:p.Pro840Leu |