HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31168676A>G , CM000668.2:g.31168676A>G | GRCh38 |
NC_000006.11:g.31136453A>G , CM000668.1:g.31136453A>G | GRCh37 |
NC_000006.10:g.31244432A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259915.13:c.405+1540T>C MANE Select | ENSP00000259915.7:n.405+1540T>C | |
ENST00000259915.12:c.405+1540T>C | ENSP00000259915.7:n.405+1540T>C | |
ENST00000441888.7:c.-183-2629T>C | ENSP00000389359.2:n.-183-2629T>C | |
ENST00000461401.1:n.443+1540T>C | ||
ENST00000619340.1:c.405+1540T>C | ENSP00000481679.1:n.405+1540T>C | |
NM_002701.5:c.405+1540T>C | NP_002692.2:n.405+1540T>C | |
NM_002701.6:c.405+1540T>C MANE Select | NP_002692.2:n.405+1540T>C |