HGVS | Genome Assembly |
---|---|
NC_000008.11:g.88060856A>G , CM000670.2:g.88060856A>G | GRCh38 |
NC_000008.10:g.89073084A>G , CM000670.1:g.89073084A>G | GRCh37 |
NC_000008.9:g.89142200A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286614.11:c.1223-4578T>C MANE Select | ENSP00000286614.6:n.1223-4578T>C | |
ENST00000286614.10:c.1223-4578T>C | ENSP00000286614.6:n.1223-4578T>C | |
NM_005941.4:c.1223-4578T>C | NP_005932.2:n.1223-4578T>C | |
XM_011517039.1:c.1223-4578T>C | XP_011515341.1:n.1223-4578T>C | |
XM_011517040.1:c.1223-4578T>C | XP_011515342.1:n.1223-4578T>C | |
XM_011517041.1:c.1094-4578T>C | XP_011515343.1:n.1094-4578T>C | |
XR_928334.1:n.1505-4578T>C | ||
XM_024447154.1:c.434-4578T>C | XP_024302922.1:n.434-4578T>C | |
NM_005941.5:c.1223-4578T>C MANE Select | NP_005932.2:n.1223-4578T>C |