dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186069983A>G , CM000666.2:g.186069983A>G | GRCh38 |
| NC_000004.11:g.186991137A>G , CM000666.1:g.186991137A>G | GRCh37 |
| NC_000004.10:g.187228131A>G | NCBI36 |
| NG_007278.1:g.5829A>G , LRG_117:g.5829A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698351.1:c.-8+735A>G | ENSP00000513674.1:n.-8+735A>G | |
| ENST00000698352.1:c.-8+735A>G | ENSP00000513675.1:n.-8+735A>G | |
| ENST00000296795.8:c.-8+735A>G MANE Select | ENSP00000296795.3:n.-8+735A>G | |
| ENST00000296795.7:c.-8+735A>G | ENSP00000296795.2:n.-8+735A>G | |
| ENST00000513189.1:c.-8+735A>G | ENSP00000423386.1:n.-8+735A>G | |
| NM_003265.2:c.-8+735A>G , LRG_117t1:c.-8+735A>G | NP_003256.1:n.-8+735A>G | |
| NM_003265.3:c.-8+735A>G MANE Select | NP_003256.1:n.-8+735A>G |