HGVS | Genome Assembly |
---|---|
NC_000015.10:g.78616885T>G , CM000677.2:g.78616885T>G | GRCh38 |
NC_000015.9:g.78909227T>G , CM000677.1:g.78909227T>G | GRCh37 |
NC_000015.8:g.76696282T>G | NCBI36 |
NG_016143.1:g.9411A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326828.6:c.377+139A>C MANE Select | ENSP00000315602.5:n.377+139A>C | |
ENST00000326828.5:c.377+139A>C | ENSP00000315602.5:n.377+139A>C | |
ENST00000348639.7:c.377+139A>C | ENSP00000267951.4:n.377+139A>C | |
ENST00000559658.5:c.377+139A>C | ENSP00000452896.1:n.377+139A>C | |
NM_000743.4:c.377+139A>C | NP_000734.2:n.377+139A>C | |
NM_001166694.1:c.377+139A>C | NP_001160166.1:n.377+139A>C | |
NR_046313.1:n.878+139A>C | ||
XM_006720382.1:c.176+139A>C | XP_006720445.1:n.176+139A>C | |
XM_011521173.1:c.296+139A>C | XP_011519475.1:n.296+139A>C | |
XM_006720382.3:c.176+139A>C | XP_006720445.1:n.176+139A>C | |
NM_000743.5:c.377+139A>C MANE Select | NP_000734.2:n.377+139A>C | |
NM_001166694.2:c.377+139A>C | NP_001160166.1:n.377+139A>C | |
NR_046313.2:n.579+139A>C |