HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848047T>C , CM000681.2:g.40848047T>C | GRCh38 |
NC_000019.9:g.41353952T>C , CM000681.1:g.41353952T>C | GRCh37 |
NC_000019.8:g.46045792T>C | NCBI36 |
NG_008377.1:g.7401A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.654+172A>G MANE Select | ENSP00000301141.4:n.654+172A>G | |
ENST00000301141.9:c.654+172A>G | ENSP00000301141.4:n.654+172A>G | |
ENST00000596719.5:n.505+172A>G | ||
ENST00000600495.1:c.*466+172A>G | ENSP00000472905.1:n.*466+172A>G | |
ENST00000601627.1:c.120-43944T>C | ||
ENST00000610301.1:c.654+172A>G | ENSP00000477899.1:n.654+172A>G | |
NM_000762.5:c.654+172A>G | NP_000753.3:n.654+172A>G | |
NM_000762.6:c.654+172A>G MANE Select | NP_000753.3:n.654+172A>G |