dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10526190A>T , CM000680.2:g.10526190A>T | GRCh38 |
| NC_000018.9:g.10526187A>T , CM000680.1:g.10526187A>T | GRCh37 |
| NC_000018.8:g.10516187A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322897.11:c.56+32A>T MANE Select | ENSP00000324628.6:n.56+32A>T | |
| ENST00000322897.10:c.56+32A>T | ENSP00000324628.6:n.56+32A>T | |
| ENST00000580224.5:c.56+32A>T | ENSP00000463265.1:n.56+32A>T | |
| ENST00000580483.5:c.56+32A>T | ENSP00000464496.1:n.56+32A>T | |
| ENST00000580746.1:n.54+32A>T | ||
| ENST00000582978.5:n.57+32A>T | ||
| NM_003826.2:c.56+32A>T | NP_003817.1:n.56+32A>T | |
| XM_011525755.1:c.56+32A>T | XP_011524057.1:n.56+32A>T | |
| NM_003826.3:c.56+32A>T MANE Select | NP_003817.1:n.56+32A>T |