HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16145004T>A , CM000668.2:g.16145004T>A | GRCh38 |
NC_000006.11:g.16145235T>A , CM000668.1:g.16145235T>A | GRCh37 |
NC_000006.10:g.16253214T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356840.8:c.935T>A MANE Select | ENSP00000349298.3:p.Val312Asp | |
ENST00000349606.4:c.392T>A | ENSP00000008686.5:p.Val131Asp | |
ENST00000356840.7:c.935T>A | ENSP00000349298.3:p.Val312Asp | |
NM_013262.3:c.935T>A | NP_037394.2:p.Val312Asp | |
XM_005249032.2:c.770T>A | XP_005249089.1:p.Val257Asp | |
XM_005249033.2:c.392T>A | XP_005249090.1:p.Val131Asp | |
XM_005249033.3:c.392T>A | XP_005249090.1:p.Val131Asp | |
XM_017010789.1:c.935T>A | XP_016866278.1:p.Val312Asp | |
NM_013262.4:c.935T>A MANE Select | NP_037394.2:p.Val312Asp |