HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107696018C>A , CM000669.2:g.107696018C>A | GRCh38 |
NC_000007.13:g.107336463C>A , CM000669.1:g.107336463C>A | GRCh37 |
NC_000007.12:g.107123699C>A | NCBI36 |
NG_008489.1:g.40384C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1523C>A MANE Select | ENSP00000494017.1:p.Thr508Asn | |
ENST00000644846.1:c.234C>A | ||
ENST00000265715.7:c.1523C>A | ENSP00000265715.3:p.Thr508Asn | |
ENST00000477350.5:n.370C>A | ||
ENST00000480841.5:n.372C>A | ||
ENST00000497446.5:n.538C>A | ||
NM_000441.1:c.1523C>A | NP_000432.1:p.Thr508Asn | |
XM_005250425.1:c.1523C>A | XP_005250482.1:p.Thr508Asn | |
XM_005250425.2:c.1523C>A | XP_005250482.1:p.Thr508Asn | |
XM_017012318.1:c.1445C>A | XP_016867807.1:p.Thr482Asn | |
NM_000441.2:c.1523C>A MANE Select | NP_000432.1:p.Thr508Asn |