HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6072418A>G , CM000674.2:g.6072418A>G | GRCh38 |
NC_000012.11:g.6181584A>G , CM000674.1:g.6181584A>G | GRCh37 |
NC_000012.10:g.6051845A>G | NCBI36 |
NG_009072.1:g.57253T>C | |
NG_009072.2:g.57253T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.1022T>C MANE Select | ENSP00000261405.5:p.Leu341Pro | |
ENST00000261405.9:c.1022T>C | ENSP00000261405.5:p.Leu341Pro | |
ENST00000538635.5:n.420+38097T>C | ||
NM_000552.3:c.1022T>C | NP_000543.2:p.Leu341Pro | |
NM_000552.4:c.1022T>C | NP_000543.2:p.Leu341Pro | |
NM_000552.5:c.1022T>C MANE Select | NP_000543.3:p.Leu341Pro |