dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2238591C>G , CM000669.2:g.2238591C>G | GRCh38 |
| NC_000007.13:g.2278226C>G , CM000669.1:g.2278226C>G | GRCh37 |
| NC_000007.12:g.2244752C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242257.14:c.298+827G>C MANE Select | ENSP00000242257.8:n.298+827G>C | |
| ENST00000651235.1:c.*177G>C | ENSP00000498895.1:n.*177G>C | |
| ENST00000242257.12:c.298+827G>C | ENSP00000242257.8:n.298+827G>C | |
| ENST00000407040.1:c.16+590G>C | ENSP00000384423.1:n.16+590G>C | |
| ENST00000440306.3:c.298+827G>C | ENSP00000392343.3:n.298+827G>C | |
| ENST00000467199.5:n.485+827G>C | ||
| ENST00000486040.1:n.665G>C | ||
| NM_013393.1:c.298+827G>C | NP_037525.1:n.298+827G>C | |
| NM_013393.3:c.298+827G>C MANE Select | NP_037525.1:n.298+827G>C |