HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721831G>T , CM000668.2:g.42721831G>T | GRCh38 |
NC_000006.11:g.42689569G>T , CM000668.1:g.42689569G>T | GRCh37 |
NC_000006.10:g.42797547G>T | NCBI36 |
NG_009176.1:g.5790C>A | |
NG_009176.2:g.5790C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.504C>A MANE Select | ENSP00000230381.5:p.Asn168Lys | |
ENST00000230381.6:c.504C>A | ENSP00000230381.5:p.Asn168Lys | |
NM_000322.4:c.504C>A | NP_000313.2:p.Asn168Lys | |
XR_427834.2:n.1159C>A | ||
XR_926295.1:n.1159C>A | ||
XR_427834.4:n.1209C>A | ||
XR_926295.3:n.1209C>A | ||
NM_000322.5:c.504C>A MANE Select | NP_000313.2:p.Asn168Lys |