HGVS | Genome Assembly |
---|---|
NC_000007.14:g.83367727G>A , CM000669.2:g.83367727G>A | GRCh38 |
NC_000007.13:g.82997043G>A , CM000669.1:g.82997043G>A | GRCh37 |
NC_000007.12:g.82834979G>A | NCBI36 |
NG_021242.1:g.286437C>T | |
NG_021242.2:g.286437C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000427262.6:c.2007C>T | ENSP00000405052.1:p.Cys669= | |
ENST00000643230.2:c.2187C>T MANE Select | ENSP00000496491.1:p.Cys729= | |
ENST00000643441.1:n.2172C>T | ||
ENST00000307792.7:c.2187C>T | ENSP00000303212.3:p.Cys729= | |
ENST00000427262.5:c.2007C>T | ENSP00000405052.1:p.Cys669= | |
NM_001178129.1:c.2007C>T | NP_001171600.1:p.Cys669= | |
NM_012431.2:c.2187C>T | NP_036563.1:p.Cys729= | |
NM_012431.3:c.2187C>T MANE Select | NP_036563.1:p.Cys729= | |
NM_001178129.2:c.2007C>T | NP_001171600.1:p.Cys669= |