HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42722321T>A , CM000668.2:g.42722321T>A | GRCh38 |
NC_000006.11:g.42690059T>A , CM000668.1:g.42690059T>A | GRCh37 |
NC_000006.10:g.42798037T>A | NCBI36 |
NG_009176.1:g.5300A>T | |
NG_009176.2:g.5300A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.14A>T MANE Select | ENSP00000230381.5:p.Lys5Ile | |
ENST00000230381.6:c.14A>T | ENSP00000230381.5:p.Lys5Ile | |
NM_000322.4:c.14A>T | NP_000313.2:p.Lys5Ile | |
XR_427834.2:n.669A>T | ||
XR_926295.1:n.669A>T | ||
XR_427834.4:n.719A>T | ||
XR_926295.3:n.719A>T | ||
NM_000322.5:c.14A>T MANE Select | NP_000313.2:p.Lys5Ile |