HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818858A>G , CM000671.2:g.129818858A>G | GRCh38 |
NC_000009.11:g.132581137A>G , CM000671.1:g.132581137A>G | GRCh37 |
NC_000009.10:g.131620958A>G | NCBI36 |
NG_008049.1:g.10305T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.507T>C MANE Select | ENSP00000345719.4:p.Phe169= | |
ENST00000651202.1:c.603T>C | ENSP00000498222.1:p.Phe201= | |
ENST00000351698.4:c.507T>C | ENSP00000345719.4:p.Phe169= | |
ENST00000473604.2:n.617T>C | ||
NM_000113.2:c.507T>C | NP_000104.1:p.Phe169= | |
XR_929731.1:n.667T>C | ||
XR_929731.3:n.535T>C | ||
NM_000113.3:c.507T>C MANE Select | NP_000104.1:p.Phe169= |