HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66203813A>G , CM000674.2:g.66203813A>G | GRCh38 |
NC_000012.11:g.66597593A>G , CM000674.1:g.66597593A>G | GRCh37 |
NC_000012.10:g.64883860A>G | NCBI36 |
NG_021194.1:g.19616A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261233.9:c.236A>G MANE Select | ENSP00000261233.4:p.Lys79Arg | |
ENST00000261233.8:c.236A>G | ENSP00000261233.4:p.Lys79Arg | |
ENST00000457197.2:c.134-5643A>G | ENSP00000409852.2:n.134-5643A>G | |
NM_001142523.1:c.134-5643A>G | NP_001135995.1:n.134-5643A>G | |
NM_007199.2:c.236A>G | NP_009130.2:p.Lys79Arg | |
NM_001142523.2:c.134-5643A>G | NP_001135995.1:n.134-5643A>G | |
NM_007199.3:c.236A>G MANE Select | NP_009130.2:p.Lys79Arg |