Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5015039A>G , CM000679.2:g.5015039A>G | GRCh38 |
| NC_000017.10:g.4918334A>G , CM000679.1:g.4918334A>G | GRCh37 |
| NC_000017.9:g.4859058A>G | NCBI36 |
| NG_034137.1:g.22092A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006612.6:c.1666+202A>G MANE Select | NP_006603.2:n.1666+202A>G |
| ENST00000320785.10:c.1666+202A>G MANE Select | ENSP00000320821.5:n.1666+202A>G |
| NM_006612.5:c.1666+202A>G | NP_006603.2:n.1666+202A>G |
| ENST00000320785.9:c.1666+202A>G | ENSP00000320821.5:n.1666+202A>G |
| ENST00000573815.1:n.208+202A>G | |
| XM_005256424.1:c.1666+202A>G | XP_005256481.1:n.1666+202A>G |
| XM_005256424.2:c.1666+202A>G | XP_005256481.1:n.1666+202A>G |