dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.130258151T>A , CM000672.2:g.130258151T>A | GRCh38 |
| NC_000010.10:g.132056415T>A , CM000672.1:g.132056415T>A | GRCh37 |
| NC_000010.9:g.131946405T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011540452.1:c.174+44122T>A | XP_011538754.1:n.174+44122T>A | |
| XM_011540453.1:c.333+6086T>A | XP_011538755.1:n.333+6086T>A | |
| XR_946468.1:n.7228+44122T>A | ||
| XR_946469.1:n.7228+44122T>A | ||
| XR_946471.1:n.7228+44122T>A | ||
| XR_946472.1:n.7387+6086T>A | ||
| XR_946473.1:n.7228+44122T>A | ||
| XR_946474.1:n.7228+44122T>A | ||
| XR_946477.1:n.7228+44122T>A | ||
| XR_002957106.1:n.3104+44122T>A |