HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134834988C= , CM000671.2:g.134834988C= | GRCh38 |
NC_000009.11:g.137726834C= , CM000671.1:g.137726834C= | GRCh37 |
NC_000009.10:g.136866655C= | NCBI36 |
NG_008030.1:g.198183C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371820.4:c.5154C= | ENSP00000360885.4:p.Ala1718= | |
ENST00000371817.8:c.5154C= MANE Select | ENSP00000360882.3:p.Ala1718= | |
ENST00000371817.7:c.5154C= | ENSP00000360882.3:p.Ala1718= | |
ENST00000371820.3:c.412C= | ||
ENST00000618395.4:c.5154C= | ENSP00000481360.1:p.Ala1718= | |
NM_000093.4:c.5154C= | NP_000084.3:p.Ala1718= | |
NM_001278074.1:c.5154C= | NP_001265003.1:p.Ala1718= | |
NR_103451.2:n.71-14779G= | ||
XR_929712.1:n.5838C= | ||
XR_929713.1:n.5706C= | ||
NM_000093.5:c.5154C= MANE Select | NP_000084.3:p.Ala1718= |