HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17849678T>C , CM000672.2:g.17849678T>C | GRCh38 |
NG_047011.1:g.45336T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000569591.3:c.1163T>C MANE Select | ENSP00000455897.1:p.Leu388Pro | |
ENST00000569591.2:c.1163T>C | ENSP00000455897.1:p.Leu388Pro | |
NM_002438.3:c.1163T>C | NP_002429.1:p.Leu388Pro | |
NM_002438.4:c.1163T>C MANE Select | NP_002429.1:p.Leu388Pro |