HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818750A>C , CM000671.2:g.129818750A>C | GRCh38 |
NC_000009.11:g.132581029A>C , CM000671.1:g.132581029A>C | GRCh37 |
NC_000009.10:g.131620850A>C | NCBI36 |
NG_008049.1:g.10413T>G |
HGVS | Amino-acid Change |
---|---|
NM_000113.3:c.615T>G MANE Select | NP_000104.1:p.Phe205Leu |
ENST00000351698.5:c.615T>G MANE Select | ENSP00000345719.4:p.Phe205Leu |
NM_000113.2:c.615T>G | NP_000104.1:p.Phe205Leu |
ENST00000351698.4:c.615T>G | ENSP00000345719.4:p.Phe205Leu |
ENST00000473604.2:n.725T>G | |
ENST00000474192.1:n.32T>G | |
ENST00000651202.1:c.711T>G | ENSP00000498222.1:p.Phe237Leu |
XR_929731.1:n.775T>G | |
XR_929731.3:n.643T>G |