HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94422971T>C , CM000669.2:g.94422971T>C | GRCh38 |
NC_000007.13:g.94052283T>C , CM000669.1:g.94052283T>C | GRCh37 |
NC_000007.12:g.93890219T>C | NCBI36 |
NG_007405.1:g.33411T>C , LRG_2:g.33411T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.2418T>C MANE Select | ENSP00000297268.6:p.Pro806= | |
ENST00000297268.10:c.2418T>C | ENSP00000297268.6:p.Pro806= | |
ENST00000481570.5:n.501T>C | ||
ENST00000497316.5:n.815T>C | ||
ENST00000620463.1:c.2412T>C | ENSP00000477719.1:p.Pro804= | |
NM_000089.3:c.2418T>C , LRG_2t1:c.2418T>C | NP_000080.2:p.Pro806= | |
NM_000089.4:c.2418T>C MANE Select | NP_000080.2:p.Pro806= |