Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73136428G>A , CM000676.2:g.73136428G>A | GRCh38 |
| NC_000014.8:g.73603136G>A , CM000676.1:g.73603136G>A | GRCh37 |
| NC_000014.7:g.72672889G>A | NCBI36 |
| NG_007386.2:g.4958G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700265.1:c.-124G>A | ENSP00000514901.1:n.-124G>A | |
| ENST00000700266.1:c.-291G>A | ENSP00000514902.1:n.-291G>A | |
| ENST00000700267.1:c.-156G>A | ENSP00000514903.1:n.-156G>A | |
| ENST00000557356.5:c.-156G>A | ENSP00000451498.1:n.-156G>A |