HGVS | Genome Assembly |
---|---|
NC_000014.9:g.65075111A>C , CM000676.2:g.65075111A>C | GRCh38 |
NC_000014.8:g.65541829A>C , CM000676.1:g.65541829A>C | GRCh37 |
NC_000014.7:g.64611582A>C | NCBI36 |
NG_029830.1:g.32399T>G , LRG_530:g.32399T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651648.1:c.145-4742T>G | ENSP00000498863.1:n.145-4742T>G | |
ENST00000341653.6:c.171+18597T>G | ENSP00000342482.2:n.171+18597T>G | |
NM_001271069.1:c.144+18597T>G | NP_001257998.1:n.144+18597T>G | |
NM_197957.3:c.171+18597T>G | NP_932061.1:n.171+18597T>G | |
NM_001271069.2:c.144+18597T>G | NP_001257998.1:n.144+18597T>G | |
NM_197957.4:c.171+18597T>G | NP_932061.1:n.171+18597T>G |