Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749948A>T , CM000677.2:g.58749948A>T | GRCh38 |
| NC_000015.9:g.59042147A>T , CM000677.1:g.59042147A>T | GRCh37 |
| NC_000015.8:g.56829439A>T | NCBI36 |
| NG_033876.1:g.5031T>A | |
| NG_033876.2:g.4760T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-414T>A | ENSP00000260408.3:n.-414T>A | |
| NM_001110.3:c.-414T>A | NP_001101.1:n.-414T>A | |
| NM_001320570.1:c.-414T>A | NP_001307499.1:n.-414T>A |