dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.16253756G>C , CM000674.2:g.16253756G>C | GRCh38 |
| NC_000012.11:g.16406690G>C , CM000674.1:g.16406690G>C | GRCh37 |
| NC_000012.10:g.16297957G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344941.3:c.754+3945C>G MANE Select | ENSP00000340402.3:n.754+3945C>G | |
| NM_001170798.1:c.754+3945C>G MANE Select | NP_001164269.1:n.754+3945C>G | |
| XR_001749028.1:n.526+8733G>C |