HGVS | Genome Assembly |
---|---|
NC_000010.11:g.93588333G>C , CM000672.2:g.93588333G>C | GRCh38 |
NC_000010.10:g.95348090G>C , CM000672.1:g.95348090G>C | GRCh37 |
NC_000010.9:g.95338080G>C | NCBI36 |
NG_032670.1:g.26669G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371481.9:c.*724G>C MANE Select | ENSP00000360536.5:n.*724G>C | |
ENST00000371481.8:c.*724G>C | ENSP00000360536.4:n.*724G>C | |
ENST00000371483.8:c.*724G>C | ENSP00000360538.4:n.*724G>C | |
ENST00000604414.1:c.696+12114G>C | ENSP00000474477.1:n.696+12114G>C | |
NM_001195755.1:c.*724G>C | NP_001182684.1:n.*724G>C | |
NM_181745.3:c.*724G>C | NP_859529.2:n.*724G>C | |
NM_001195755.2:c.*724G>C MANE Select | NP_001182684.1:n.*724G>C | |
NM_181745.4:c.*724G>C | NP_859529.2:n.*724G>C |