MutSpliceDB:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38689884G>A , CM000666.2:g.38689884G>A | GRCh38 |
| NC_000004.11:g.38691505G>A , CM000666.1:g.38691505G>A | GRCh37 |
| NC_000004.10:g.38367900G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261438.10:c.695+5G>A MANE Select | ENSP00000261438.5:n.695+5G>A | |
| ENST00000261438.9:c.695+5G>A | ENSP00000261438.5:n.695+5G>A | |
| ENST00000514033.1:c.*1G>A | ENSP00000421252.1:n.*1G>A | |
| NM_016531.5:c.695+5G>A | NP_057615.3:n.695+5G>A | |
| XM_006714015.2:c.620+5G>A | XP_006714078.1:n.620+5G>A | |
| XR_925142.1:n.1027+5G>A | ||
| XM_017008279.2:c.620+5G>A | XP_016863768.1:n.620+5G>A | |
| XR_001741235.2:n.853+5G>A | ||
| NM_016531.6:c.695+5G>A MANE Select | NP_057615.3:n.695+5G>A |