HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40847999T>G , CM000681.2:g.40847999T>G | GRCh38 |
NC_000019.9:g.41353904T>G , CM000681.1:g.41353904T>G | GRCh37 |
NC_000019.8:g.46045744T>G | NCBI36 |
NG_008377.1:g.7449A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.654+220A>C MANE Select | ENSP00000301141.4:n.654+220A>C | |
ENST00000301141.9:c.654+220A>C | ENSP00000301141.4:n.654+220A>C | |
ENST00000596719.5:n.505+220A>C | ||
ENST00000600495.1:c.*466+220A>C | ENSP00000472905.1:n.*466+220A>C | |
ENST00000601627.1:c.120-43992T>G | ||
ENST00000610301.1:c.654+220A>C | ENSP00000477899.1:n.654+220A>C | |
NM_000762.5:c.654+220A>C | NP_000753.3:n.654+220A>C | |
NM_000762.6:c.654+220A>C MANE Select | NP_000753.3:n.654+220A>C |