HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49016123T>C , CM000681.2:g.49016123T>C | GRCh38 |
NC_000019.9:g.49519380T>C , CM000681.1:g.49519380T>C | GRCh37 |
NC_000019.8:g.54211192T>C | NCBI36 |
NG_011464.1:g.5968A>G | |
NG_033041.1:g.27225T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649238.3:c.371A>G MANE Select | ENSP00000497294.2:p.Lys124Arg | |
ENST00000649284.1:n.462A>G | ||
ENST00000221421.6:c.371A>G | ENSP00000221421.1:p.Lys124Arg | |
ENST00000391869.4:c.365A>G | ENSP00000375742.4:p.Lys122Arg | |
NM_000894.2:c.371A>G | NP_000885.1:p.Lys124Arg | |
XM_011526975.1:c.419A>G | XP_011525277.1:p.Lys140Arg | |
NM_000894.3:c.371A>G MANE Select | NP_000885.1:p.Lys124Arg |