Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357239C>G , CM000668.2:g.31357239C>G | GRCh38 |
| NC_000006.11:g.31325016C>G , CM000668.1:g.31325016C>G | GRCh37 |
| NC_000006.10:g.31432995C>G | NCBI36 |
| NG_023187.1:g.4974G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1393G>C | ||
| ENST00000481849.6:n.1393G>C | ||
| ENST00000497377.6:n.1393G>C | ||
| ENST00000696559.1:c.-81G>C | ENSP00000512717.1:n.-81G>C | |
| ENST00000696560.1:c.-81G>C | ENSP00000512718.1:n.-81G>C | |
| ENST00000696561.1:c.-81G>C | ENSP00000512719.1:n.-81G>C | |
| ENST00000696562.1:c.-81G>C | ENSP00000512720.1:n.-81G>C | |
| ENST00000603274.1:n.593C>G | ||
| NM_005514.7:c.-81G>C | NP_005505.2:n.-81G>C |