dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.62971034C>G , CM000670.2:g.62971034C>G | GRCh38 |
| NC_000008.10:g.63883593C>G , CM000670.1:g.63883593C>G | GRCh37 |
| NC_000008.9:g.64046147C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519049.6:c.533-28197C>G | ENSP00000501734.1:n.533-28197C>G | |
| ENST00000623646.3:c.*5627C>G MANE Select | ENSP00000501908.1:n.*5627C>G | |
| ENST00000674864.1:c.603+17062C>G | ENSP00000502526.1:n.603+17062C>G | |
| ENST00000674873.1:n.493-40953C>G | ||
| ENST00000523211.5:c.533-19134C>G | ENSP00000429073.1:n.533-19134C>G | |
| NR_130764.1:n.665-19134C>G | ||
| XM_017013359.1:c.533-28197C>G | XP_016868848.1:n.533-28197C>G | |
| NR_130764.2:n.753-19134C>G | ||
| NM_001304533.3:c.*5627C>G MANE Select | NP_001291462.1:n.*5627C>G |