HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400149A>C , CM000670.2:g.18400149A>C | GRCh38 |
NC_000008.10:g.18257659A>C , CM000670.1:g.18257659A>C | GRCh37 |
NC_000008.9:g.18301939A>C | NCBI36 |
NG_012246.1:g.13905A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.146A>C MANE Select | ENSP00000286479.3:p.Glu49Ala | |
ENST00000286479.3:c.146A>C | ENSP00000286479.3:p.Glu49Ala | |
ENST00000520116.1:c.-57-188A>C | ENSP00000428416.1:n.-57-188A>C | |
NM_000015.2:c.146A>C | NP_000006.2:p.Glu49Ala | |
XM_011544358.1:c.146A>C | XP_011542660.1:p.Glu49Ala | |
XM_017012938.1:c.146A>C | XP_016868427.1:p.Glu49Ala | |
NM_000015.3:c.146A>C MANE Select | NP_000006.2:p.Glu49Ala |