HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30220212A>G , CM000679.2:g.30220212A>G | GRCh38 |
NC_000017.10:g.28547230A>G , CM000679.1:g.28547230A>G | GRCh37 |
NC_000017.9:g.25571356A>G | NCBI36 |
NG_011747.2:g.20725T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.344-1281T>C MANE Select | ENSP00000498537.1:n.344-1281T>C | |
ENST00000261707.7:c.344-1281T>C | ENSP00000261707.3:n.344-1281T>C | |
ENST00000394821.2:c.344-1281T>C | ENSP00000378298.2:n.344-1281T>C | |
ENST00000401766.6:c.344-1281T>C | ENSP00000385822.2:n.344-1281T>C | |
NM_001045.5:c.344-1281T>C | NP_001036.1:n.344-1281T>C | |
NM_001045.6:c.344-1281T>C MANE Select | NP_001036.1:n.344-1281T>C |