HGVS | Genome Assembly |
---|---|
NC_000007.14:g.55019062G>C , CM000669.2:g.55019062G>C | GRCh38 |
NC_000007.13:g.55086755G>C , CM000669.1:g.55086755G>C | GRCh37 |
NC_000007.12:g.55054249G>C | NCBI36 |
NG_007726.3:g.5031G>C , LRG_304:g.5031G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344576.7:c.-216G>C | ENSP00000345973.2:n.-216G>C | |
ENST00000275493.7:c.-216G>C MANE Select | ENSP00000275493.2:n.-216G>C | |
ENST00000342916.7:c.-216G>C | ENSP00000342376.3:n.-216G>C | |
ENST00000344576.6:c.-216G>C | ENSP00000345973.2:n.-216G>C | |
ENST00000420316.6:c.-216G>C | ENSP00000413843.2:n.-216G>C | |
ENST00000454757.6:c.-216G>C | ENSP00000395243.3:n.-216G>C | |
ENST00000455089.5:c.-216G>C | ENSP00000415559.1:n.-216G>C | |
NM_005228.3:c.-216G>C , LRG_304t1:c.-216G>C | NP_005219.2:n.-216G>C | |
NM_201282.1:c.-216G>C | NP_958439.1:n.-216G>C | |
NM_201283.1:c.-216G>C | NP_958440.1:n.-216G>C | |
NM_201284.1:c.-216G>C | NP_958441.1:n.-216G>C | |
NM_001346897.1:c.-216G>C | NP_001333826.1:n.-216G>C | |
NM_001346898.1:c.-216G>C | NP_001333827.1:n.-216G>C | |
NM_001346899.1:c.-216G>C | NP_001333828.1:n.-216G>C | |
NM_001346941.1:c.-216G>C | NP_001333870.1:n.-216G>C | |
NM_005228.4:c.-216G>C | NP_005219.2:n.-216G>C | |
XR_001745212.2:n.147C>G | ||
NM_005228.5:c.-216G>C MANE Select | NP_005219.2:n.-216G>C | |
NM_001346897.2:c.-216G>C | NP_001333826.1:n.-216G>C | |
NM_001346898.2:c.-216G>C | NP_001333827.1:n.-216G>C | |
NM_001346941.2:c.-216G>C | NP_001333870.1:n.-216G>C | |
NM_201282.2:c.-216G>C | NP_958439.1:n.-216G>C | |
NM_201284.2:c.-216G>C | NP_958441.1:n.-216G>C | |
NM_001346899.2:c.-216G>C | NP_001333828.1:n.-216G>C | |
NM_201283.2:c.-216G>C | NP_958440.1:n.-216G>C |