HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818752A>C , CM000671.2:g.129818752A>C | GRCh38 |
NC_000009.11:g.132581031A>C , CM000671.1:g.132581031A>C | GRCh37 |
NC_000009.10:g.131620852A>C | NCBI36 |
NG_008049.1:g.10411T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.613T>G MANE Select | ENSP00000345719.4:p.Phe205Val | |
ENST00000651202.1:c.709T>G | ENSP00000498222.1:p.Phe237Val | |
ENST00000351698.4:c.613T>G | ENSP00000345719.4:p.Phe205Val | |
ENST00000473604.2:n.723T>G | ||
ENST00000474192.1:n.30T>G | ||
NM_000113.2:c.613T>G | NP_000104.1:p.Phe205Val | |
XR_929731.1:n.773T>G | ||
XR_929731.3:n.641T>G | ||
NM_000113.3:c.613T>G MANE Select | NP_000104.1:p.Phe205Val |