HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49016109T>G , CM000681.2:g.49016109T>G | GRCh38 |
NC_000019.9:g.49519366T>G , CM000681.1:g.49519366T>G | GRCh37 |
NC_000019.8:g.54211178T>G | NCBI36 |
NG_011464.1:g.5982A>C | |
NG_033041.1:g.27211T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649238.3:c.385A>C MANE Select | ENSP00000497294.2:p.Thr129Pro | |
ENST00000649284.1:n.476A>C | ||
ENST00000221421.6:c.385A>C | ENSP00000221421.1:p.Thr129Pro | |
ENST00000391869.4:c.379A>C | ENSP00000375742.4:p.Thr127Pro | |
NM_000894.2:c.385A>C | NP_000885.1:p.Thr129Pro | |
XM_011526975.1:c.433A>C | XP_011525277.1:p.Thr145Pro | |
NM_000894.3:c.385A>C MANE Select | NP_000885.1:p.Thr129Pro |