gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58882340G>C , CM000677.2:g.58882340G>C | GRCh38 |
| NC_000015.9:g.59174539G>C , CM000677.1:g.59174539G>C | GRCh37 |
| NC_000015.8:g.56961831G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380516.7:c.2996+1286C>G (SLTM) MANE Select | ENSP00000369887.2:n.2996+1286C>G | |
| ENST00000380516.6:c.2996+1286C>G (SLTM) | ENSP00000369887.2:n.2996+1286C>G | |
| ENST00000432750.5:c.1694+1286C>G (SLTM) | ENSP00000411534.1:n.1694+1286C>G | |
| ENST00000492526.5:c.*1795+1286C>G (SLTM) | ENSP00000453711.1:n.*1795+1286C>G | |
| ENST00000493062.5:n.311+1286C>G (SLTM) | ||
| ENST00000557924.5:c.*2250+1286C>G (SLTM) | ENSP00000454000.1:n.*2250+1286C>G | |
| ENST00000559757.1:c.-20+17038G>C (RNF111) | ENSP00000452919.1:n.-20+17038G>C | |
| ENST00000560494.1:c.194+1286C>G (SLTM) | ENSP00000452805.1:n.194+1286C>G | |
| NM_001013843.1:c.2942+1286C>G (SLTM) | NP_001013865.1:n.2942+1286C>G | |
| NM_024755.2:c.2996+1286C>G (SLTM) | NP_079031.2:n.2996+1286C>G | |
| XM_006720686.2:c.2750+1286C>G (SLTM) | XP_006720749.2:n.2750+1286C>G | |
| XM_006720690.1:c.1703+1286C>G (SLTM) | XP_006720753.1:n.1703+1286C>G | |
| XM_011522022.1:c.3422+1286C>G (SLTM) | XP_011520324.1:n.3422+1286C>G | |
| XM_011522023.1:c.3368+1286C>G (SLTM) | XP_011520325.1:n.3368+1286C>G | |
| XM_011522024.1:c.3272+1286C>G (SLTM) | XP_011520326.1:n.3272+1286C>G | |
| XM_011522025.1:c.3224+1286C>G (SLTM) | XP_011520327.1:n.3224+1286C>G | |
| XM_011522026.1:c.2798+1286C>G (SLTM) | XP_011520328.1:n.2798+1286C>G | |
| XM_011522027.1:c.3176+1286C>G (SLTM) | XP_011520329.1:n.3176+1286C>G | |
| XM_011522028.1:c.3122+1286C>G (SLTM) | XP_011520330.1:n.3122+1286C>G | |
| XM_011522029.1:c.2858+1286C>G (SLTM) | XP_011520331.1:n.2858+1286C>G | |
| XM_011522031.1:c.2312+1286C>G (SLTM) | XP_011520333.1:n.2312+1286C>G | |
| XM_011522032.1:c.1703+1286C>G (SLTM) | XP_011520334.1:n.1703+1286C>G | |
| NM_001013843.2:c.2942+1286C>G (SLTM) | NP_001013865.1:n.2942+1286C>G | |
| NM_024755.3:c.2996+1286C>G (SLTM) | NP_079031.2:n.2996+1286C>G | |
| NR_135042.1:n.2440+1286C>G (SLTM) | ||
| NR_135043.1:n.2550+1286C>G (SLTM) | ||
| XM_006720686.3:c.3155+1286C>G (SLTM) | XP_006720749.3:n.3155+1286C>G | |
| XM_011522029.2:c.2858+1286C>G (SLTM) | XP_011520331.1:n.2858+1286C>G | |
| XM_011522031.2:c.2312+1286C>G (SLTM) | XP_011520333.1:n.2312+1286C>G | |
| XM_017022576.1:c.2792+1286C>G (SLTM) | XP_016878065.1:n.2792+1286C>G | |
| XM_017022578.1:c.3101+1286C>G (SLTM) | XP_016878067.1:n.3101+1286C>G | |
| XM_017022579.1:c.2837+1286C>G (SLTM) | XP_016878068.1:n.2837+1286C>G | |
| XM_017022580.2:c.1703+1286C>G (SLTM) | XP_016878069.1:n.1703+1286C>G | |
| XM_024450054.1:c.2312+1286C>G (SLTM) | XP_024305822.1:n.2312+1286C>G | |
| XM_024450055.1:c.1592+1286C>G (SLTM) | XP_024305823.1:n.1592+1286C>G | |
| XR_001751390.1:n.3584+1286C>G (SLTM) | ||
| XR_001751391.2:n.2926+1286C>G (SLTM) | ||
| XR_001751392.1:n.2872+1286C>G (SLTM) | ||
| XR_001751393.1:n.3317+1286C>G (SLTM) | ||
| NM_024755.4:c.2996+1286C>G (SLTM) MANE Select | NP_079031.2:n.2996+1286C>G | |
| NM_001013843.3:c.2942+1286C>G (SLTM) | NP_001013865.1:n.2942+1286C>G | |
| NR_135042.2:n.2443+1286C>G (SLTM) | ||
| NR_135043.2:n.2553+1286C>G (SLTM) |