HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6872588A>C , CM000686.2:g.6872588A>C | GRCh38 |
NC_000024.9:g.6740629A>C , CM000686.1:g.6740629A>C | GRCh37 |
NC_000024.8:g.6800629A>C | NCBI36 |
NG_008011.1:g.6440T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651267.2:c.21T>G MANE Select | ENSP00000498344.1:p.Phe7Leu | |
ENST00000215479.10:c.21T>G | ENSP00000215479.5:p.Phe7Leu | |
ENST00000651267.1:c.21T>G | ENSP00000498344.1:p.Phe7Leu | |
ENST00000215479.9:c.21T>G | ENSP00000215479.5:p.Phe7Leu | |
ENST00000383036.1:c.21T>G | ENSP00000372505.1:p.Phe7Leu | |
NM_001143.1:c.21T>G | NP_001134.1:p.Phe7Leu | |
XM_011531472.1:c.21T>G | XP_011529774.1:p.Phe7Leu | |
NM_001364814.1:c.21T>G | NP_001351743.1:p.Phe7Leu | |
NM_001143.2:c.21T>G MANE Select | NP_001134.1:p.Phe7Leu |