MutSpliceDB:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20990384A>C , CM000684.2:g.20990384A>C | GRCh38 |
| NC_000022.10:g.21344673A>C , CM000684.1:g.21344673A>C | GRCh37 |
| NC_000022.9:g.19674673A>C | NCBI36 |
| NG_034193.1:g.13116A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.652-2A>C | ENSP00000515073.1:n.652-2A>C | |
| ENST00000642151.1:c.483-2A>C | ||
| ENST00000644435.1:c.474-2A>C | ||
| ENST00000646124.2:c.652-2A>C MANE Select | ENSP00000496779.1:n.652-2A>C | |
| ENST00000646506.1:n.231-2A>C | ||
| ENST00000215739.12:c.652-2A>C | ENSP00000215739.8:n.652-2A>C | |
| ENST00000414985.5:c.*218-2A>C | ENSP00000397247.1:n.*218-2A>C | |
| ENST00000479606.5:n.798-2A>C | ||
| ENST00000480895.1:n.348-2A>C | ||
| ENST00000497716.5:n.35-2A>C | ||
| NM_006767.3:c.652-2A>C | NP_006758.2:n.652-2A>C | |
| NM_006767.4:c.652-2A>C MANE Select | NP_006758.2:n.652-2A>C |