HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862879G>C , CM000666.2:g.4862879G>C | GRCh38 |
NC_000004.11:g.4864606G>C , CM000666.1:g.4864606G>C | GRCh37 |
NC_000004.10:g.4915507G>C | NCBI36 |
NG_008121.1:g.8215G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.648G>C MANE Select | ENSP00000372170.4:p.Val216= | |
ENST00000382723.4:c.648G>C | ENSP00000372170.4:p.Val216= | |
ENST00000468421.1:n.360G>C | ||
NM_002448.3:c.648G>C MANE Select | NP_002439.2:p.Val216= |