dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96375748A>C , CM000672.2:g.96375748A>C | GRCh38 |
| NC_000010.10:g.98135505A>C , CM000672.1:g.98135505A>C | GRCh37 |
| NC_000010.9:g.98125495A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357947.4:c.2448+944T>G MANE Select | ENSP00000350630.3:n.2448+944T>G | |
| ENST00000357947.3:c.2448+944T>G | ENSP00000350630.3:n.2448+944T>G | |
| NM_012465.3:c.2448+944T>G | NP_036597.1:n.2448+944T>G | |
| NM_012465.4:c.2448+944T>G MANE Select | NP_036597.1:n.2448+944T>G |