HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2146388A>G , CM000673.2:g.2146388A>G | GRCh38 |
NC_000011.9:g.2167618A>G , CM000673.1:g.2167618A>G | GRCh37 |
NC_000011.8:g.2124194A>G | NCBI36 |
NG_008849.1:g.8216T>C | |
NG_050578.1:g.19822T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356578.8:c.*46+1178T>C | ENSP00000348986.4:p.= | |
NM_001007139.5:c.-7+1178T>C | NP_001007140.2:p.= |