HGVS | Genome Assembly |
---|---|
NC_000003.12:g.111704282G>C , CM000665.2:g.111704282G>C | GRCh38 |
NC_000003.11:g.111423129G>C , CM000665.1:g.111423129G>C | GRCh37 |
NC_000003.10:g.112905819G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000636933.2:c.164-3644G>C MANE Select | ENSP00000490816.1:n.164-3644G>C | |
ENST00000477665.2:c.164-3644G>C | ENSP00000420686.1:n.164-3644G>C | |
ENST00000636933.1:c.164-3644G>C | ENSP00000490816.1:n.164-3644G>C | |
ENST00000393934.7:c.164-3644G>C | ENSP00000377511.3:n.164-3644G>C | |
ENST00000468174.1:c.-107-3644G>C | ENSP00000417436.1:n.-107-3644G>C | |
ENST00000477665.1:c.164-3644G>C | ENSP00000420686.1:n.164-3644G>C | |
NM_001185106.1:c.164-3644G>C | NP_001172035.1:n.164-3644G>C | |
NM_153268.3:c.164-3644G>C | NP_695000.1:n.164-3644G>C |