gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131858748G>A , CM000668.2:g.131858748G>A | GRCh38 |
| NC_000006.11:g.132179888G>A , CM000668.1:g.132179888G>A | GRCh37 |
| NC_000006.10:g.132221581G>A | NCBI36 |
| NG_008206.1:g.55733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.795+1G>A MANE Select | ENSP00000498074.1:n.795+1G>A | |
| ENST00000650147.1:c.412+1G>A | ||
| ENST00000650437.1:c.286+1G>A | ||
| ENST00000360971.6:c.795+1G>A | ENSP00000354238.2:n.795+1G>A | |
| ENST00000513998.5:c.795+1G>A | ENSP00000422424.1:n.795+1G>A | |
| NM_006208.2:c.795+1G>A | NP_006199.2:n.795+1G>A | |
| NM_006208.3:c.795+1G>A MANE Select | NP_006199.2:n.795+1G>A |