HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101429827G= , CM000671.2:g.101429827G= | GRCh38 |
NC_000009.11:g.104192109G= , CM000671.1:g.104192109G= | GRCh37 |
NC_000009.10:g.103231930G= | NCBI36 |
NG_012387.1:g.10954C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.252C= MANE Select | ENSP00000497767.1:p.Leu84= | |
ENST00000648064.1:c.252C= | ENSP00000497990.1:p.Leu84= | |
ENST00000648758.1:c.252C= | ENSP00000497731.1:p.Leu84= | |
ENST00000648906.1:n.422C= | ||
ENST00000649902.1:c.252C= | ENSP00000497216.1:p.Leu84= | |
ENST00000650613.1:n.328C= | ||
ENST00000374855.8:c.252C= | ENSP00000363988.4:p.Leu84= | |
ENST00000468981.3:n.49C= | ||
ENST00000616752.1:c.252C= | ENSP00000481363.1:p.Leu84= | |
NM_000035.3:c.252C= | NP_000026.2:p.Leu84= | |
NM_000035.4:c.252C= MANE Select | NP_000026.2:p.Leu84= |