HGVS | Genome Assembly |
---|---|
NC_000001.11:g.93997942C>G , CM000663.2:g.93997942C>G | GRCh38 |
NC_000001.10:g.94463498C>G , CM000663.1:g.94463498C>G | GRCh37 |
NC_000001.9:g.94236086C>G | NCBI36 |
NG_009073.1:g.128208G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.6648G>C MANE Select | ENSP00000359245.3:p.Ala2216= | |
ENST00000370225.3:c.6648G>C | ENSP00000359245.3:p.Ala2216= | |
ENST00000536513.5:c.3024G>C | ENSP00000439707.2:p.Ala1008= | |
NM_000350.2:c.6648G>C | NP_000341.2:p.Ala2216= | |
NM_000350.3:c.6648G>C MANE Select | NP_000341.2:p.Ala2216= |