HGVS | Genome Assembly |
---|---|
NC_000006.12:g.134255373T>G , CM000668.2:g.134255373T>G | GRCh38 |
NC_000006.11:g.134576511T>G , CM000668.1:g.134576511T>G | GRCh37 |
NC_000006.10:g.134618204T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367858.10:c.285+6560A>C MANE Select | ENSP00000356832.5:n.285+6560A>C | |
ENST00000367858.9:c.285+6560A>C | ENSP00000356832.5:n.285+6560A>C | |
ENST00000460769.1:c.127+6560A>C | ||
ENST00000461976.2:c.192+6560A>C | ENSP00000435577.1:n.192+6560A>C | |
ENST00000484353.1:n.85+6560A>C | ||
NM_001143676.1:c.285+6560A>C | NP_001137148.1:n.285+6560A>C | |
XM_011536071.1:c.285+6560A>C | XP_011534373.1:n.285+6560A>C | |
NM_001143676.3:c.285+6560A>C MANE Select | NP_001137148.1:n.285+6560A>C |