dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2092276C>A , CM000670.2:g.2092276C>A | GRCh38 |
| NC_000008.9:g.2027511C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262113.9:c.1829-70C>A MANE Select | ENSP00000262113.4:n.1829-70C>A | |
| ENST00000262113.8:c.1829-70C>A | ENSP00000262113.4:n.1829-70C>A | |
| ENST00000518803.1:n.335-70C>A | ||
| ENST00000523438.1:c.104-70C>A | ENSP00000428396.1:n.104-70C>A | |
| NM_003970.3:c.1829-70C>A | NP_003961.3:n.1829-70C>A | |
| XM_006716237.1:c.1829-70C>A | XP_006716300.1:n.1829-70C>A | |
| NM_003970.4:c.1829-70C>A MANE Select | NP_003961.3:n.1829-70C>A |