dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100722313G>C , CM000669.2:g.100722313G>C | GRCh38 |
| NC_000007.13:g.100319936G>C , CM000669.1:g.100319936G>C | GRCh37 |
| NC_000007.12:g.100157872G>C | NCBI36 |
| NG_021471.1:g.6514G>C | |
| NG_021471.2:g.6514G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252723.3:c.246+265G>C MANE Select | ENSP00000252723.2:n.246+265G>C | |
| ENST00000252723.2:c.246+265G>C | ENSP00000252723.2:n.246+265G>C | |
| NM_000799.2:c.246+265G>C | NP_000790.2:n.246+265G>C | |
| NM_000799.3:c.246+265G>C | NP_000790.2:n.246+265G>C | |
| NM_000799.4:c.246+265G>C MANE Select | NP_000790.2:n.246+265G>C |