HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114134G>C , CM000667.2:g.140114134G>C | GRCh38 |
NC_000005.9:g.139493719G>C , CM000667.1:g.139493719G>C | GRCh37 |
NC_000005.8:g.139473903G>C | NCBI36 |
NG_041813.1:g.5012G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.-48G>C MANE Select | ENSP00000332706.3:n.-48G>C | |
ENST00000505703.2:c.-48G>C | ENSP00000498560.1:n.-48G>C | |
ENST00000651386.1:c.-48G>C | ENSP00000499133.1:n.-48G>C | |
ENST00000331327.4:c.-48G>C | ENSP00000332706.3:n.-48G>C | |
ENST00000502351.1:n.376G>C | ||
ENST00000505703.1:n.418G>C | ||
NM_005859.4:c.-48G>C | NP_005850.1:n.-48G>C | |
NM_005859.5:c.-48G>C MANE Select | NP_005850.1:n.-48G>C |