dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104853572C>G , CM000672.2:g.104853572C>G | GRCh38 |
| NC_000010.10:g.106613330C>G , CM000672.1:g.106613330C>G | GRCh37 |
| NC_000010.9:g.106603320C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369701.8:c.695+10713C>G MANE Select | ENSP00000358715.3:n.695+10713C>G | |
| ENST00000369699.8:c.695+10713C>G | ENSP00000358713.5:n.695+10713C>G | |
| ENST00000369701.7:c.695+10713C>G | ENSP00000358715.3:n.695+10713C>G | |
| NM_014978.2:c.695+10713C>G | NP_055793.1:n.695+10713C>G | |
| XM_011539541.1:c.695+10713C>G | XP_011537843.1:n.695+10713C>G | |
| NM_014978.3:c.695+10713C>G MANE Select | NP_055793.1:n.695+10713C>G |