HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872211T>G , CM000671.2:g.130872211T>G | GRCh38 |
NC_000009.11:g.133747598T>G , CM000671.1:g.133747598T>G | GRCh37 |
NC_000009.10:g.132737419T>G | NCBI36 |
NG_012034.1:g.163331T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.962T>G | ENSP00000361423.2:p.Leu321Arg | |
ENST00000318560.6:c.905T>G MANE Select | ENSP00000323315.5:p.Leu302Arg | |
ENST00000372348.7:c.962T>G | ENSP00000361423.2:p.Leu321Arg | |
ENST00000318560.5:c.905T>G | ENSP00000323315.5:p.Leu302Arg | |
ENST00000372348.6:c.962T>G | ENSP00000361423.2:p.Leu321Arg | |
NM_005157.5:c.905T>G | NP_005148.2:p.Leu302Arg | |
NM_007313.2:c.962T>G | NP_009297.2:p.Leu321Arg | |
NM_005157.6:c.905T>G MANE Select | NP_005148.2:p.Leu302Arg | |
NM_007313.3:c.962T>G | NP_009297.2:p.Leu321Arg |