HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134834982G>T , CM000671.2:g.134834982G>T | GRCh38 |
NC_000009.11:g.137726828G>T , CM000671.1:g.137726828G>T | GRCh37 |
NC_000009.10:g.136866649G>T | NCBI36 |
NG_008030.1:g.198177G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371820.4:c.5148G>T | ENSP00000360885.4:p.Val1716= | |
ENST00000371817.8:c.5148G>T MANE Select | ENSP00000360882.3:p.Val1716= | |
ENST00000371817.7:c.5148G>T | ENSP00000360882.3:p.Val1716= | |
ENST00000371820.3:c.406G>T | ||
ENST00000618395.4:c.5148G>T | ENSP00000481360.1:p.Val1716= | |
NM_000093.4:c.5148G>T | NP_000084.3:p.Val1716= | |
NM_001278074.1:c.5148G>T | NP_001265003.1:p.Val1716= | |
NR_103451.2:n.71-14773C>A | ||
XR_929712.1:n.5832G>T | ||
XR_929713.1:n.5700G>T | ||
NM_000093.5:c.5148G>T MANE Select | NP_000084.3:p.Val1716= |