Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24494747C>G , CM000668.2:g.24494747C>G | GRCh38 |
| NC_000006.11:g.24494975C>G , CM000668.1:g.24494975C>G | GRCh37 |
| NC_000006.10:g.24602954C>G | NCBI36 |
| NG_008161.1:g.4779C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000474784.5:n.239+220G>C | |
| ENST00000475417.1:n.233+220G>C | |
| XM_011514509.1:c.44+220G>C | XP_011512811.1:n.44+220G>C |
| XM_017010753.2:c.44+220G>C | XP_016866242.1:n.44+220G>C |
| XR_002956277.1:n.266+220G>C |