HGVS | Genome Assembly |
---|---|
NC_000002.12:g.72891485T>G , CM000664.2:g.72891485T>G | GRCh38 |
NC_000002.11:g.73118614T>G , CM000664.1:g.73118614T>G | GRCh37 |
NC_000002.10:g.72972122T>G | NCBI36 |
NG_008234.1:g.9103T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234454.6:c.734T>G MANE Select | ENSP00000234454.5:p.Leu245Arg | |
ENST00000234454.5:c.734T>G | ENSP00000234454.5:p.Leu245Arg | |
ENST00000498749.1:n.679T>G | ||
NM_003124.4:c.734T>G | NP_003115.1:p.Leu245Arg | |
NM_003124.5:c.734T>G MANE Select | NP_003115.1:p.Leu245Arg |