HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423109T>C , CM000669.2:g.94423109T>C | GRCh38 |
NC_000007.13:g.94052421T>C , CM000669.1:g.94052421T>C | GRCh37 |
NC_000007.12:g.93890357T>C | NCBI36 |
NG_007405.1:g.33549T>C , LRG_2:g.33549T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2556T>C MANE Select | ENSP00000297268.6:p.Ala852= | |
ENST00000297268.10:c.2556T>C | ENSP00000297268.6:p.Ala852= | |
ENST00000481570.5:n.639T>C | ||
ENST00000497316.5:n.953T>C | ||
ENST00000620463.1:c.2550T>C | ENSP00000477719.1:p.Ala850= | |
NM_000089.3:c.2556T>C , LRG_2t1:c.2556T>C | NP_000080.2:p.Ala852= | |
NM_000089.4:c.2556T>C MANE Select | NP_000080.2:p.Ala852= |