Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.163335583A>T , CM000666.2:g.163335583A>T | GRCh38 |
| NC_000004.11:g.164256735A>T , CM000666.1:g.164256735A>T | GRCh37 |
| NC_000004.10:g.164476185A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000511901.1:c.-152+8722T>A | ENSP00000423878.1:n.-152+8722T>A |
| XM_005263031.2:c.-152+8722T>A | XP_005263088.1:n.-152+8722T>A |
| XM_005263031.4:c.-152+8722T>A | XP_005263088.1:n.-152+8722T>A |