HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134835102C>A , CM000671.2:g.134835102C>A | GRCh38 |
NC_000009.11:g.137726948C>A , CM000671.1:g.137726948C>A | GRCh37 |
NC_000009.10:g.136866769C>A | NCBI36 |
NG_008030.1:g.198297C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371820.4:c.5268C>A | ENSP00000360885.4:p.Ala1756= | |
ENST00000371817.8:c.5268C>A MANE Select | ENSP00000360882.3:p.Ala1756= | |
ENST00000371817.7:c.5268C>A | ENSP00000360882.3:p.Ala1756= | |
ENST00000371820.3:c.526C>A | ||
ENST00000618395.4:c.5268C>A | ENSP00000481360.1:p.Ala1756= | |
NM_000093.4:c.5268C>A | NP_000084.3:p.Ala1756= | |
NM_001278074.1:c.5268C>A | NP_001265003.1:p.Ala1756= | |
NR_103451.2:n.71-14893G>T | ||
NM_000093.5:c.5268C>A MANE Select | NP_000084.3:p.Ala1756= |