dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66283241G>C , CM000673.2:g.66283241G>C | GRCh38 |
| NC_000011.9:g.66050712G>C , CM000673.1:g.66050712G>C | GRCh37 |
| NC_000011.8:g.65807288G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311445.7:c.312-7G>C MANE Select | ENSP00000310003.6:n.312-7G>C | |
| ENST00000311445.6:c.312-7G>C | ENSP00000310003.6:n.312-7G>C | |
| ENST00000528063.5:c.*149-7G>C | ENSP00000435537.1:n.*149-7G>C | |
| ENST00000528852.5:c.312-7G>C | ENSP00000432177.1:n.312-7G>C | |
| ENST00000530519.5:n.307-7G>C | ||
| ENST00000531936.1:n.301-7G>C | ||
| NM_182553.2:c.312-7G>C | NP_872359.1:n.312-7G>C | |
| NR_073078.1:n.594-7G>C | ||
| NR_073079.1:n.564-7G>C | ||
| NM_182553.3:c.312-7G>C MANE Select | NP_872359.1:n.312-7G>C | |
| NR_073078.2:n.620-7G>C | ||
| NR_073079.2:n.590-7G>C |