HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19939465C>T , CM000670.2:g.19939465C>T | GRCh38 |
NC_000008.10:g.19796976C>T , CM000670.1:g.19796976C>T | GRCh37 |
NC_000008.9:g.19841256C>T | NCBI36 |
NG_008855.1:g.5395C>T | |
NG_008855.2:g.42749C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.25C>T MANE Select | ENSP00000497642.1:p.Leu9= | |
ENST00000311322.8:c.25C>T | ENSP00000309757.6:p.Leu9= | |
ENST00000519773.1:c.25C>T | ENSP00000431028.1:p.Leu9= | |
ENST00000520959.5:c.-140-8715C>T | ENSP00000428496.1:n.-140-8715C>T | |
ENST00000521994.1:n.210C>T | ||
ENST00000522701.5:c.25C>T | ENSP00000428557.1:p.Leu9= | |
ENST00000523696.1:n.94C>T | ||
ENST00000524029.5:c.25C>T | ENSP00000428237.1:p.Leu9= | |
NM_000237.2:c.25C>T | NP_000228.1:p.Leu9= | |
NM_000237.3:c.25C>T MANE Select | NP_000228.1:p.Leu9= |