dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8047173T>A , CM000672.2:g.8047173T>A | GRCh38 |
| NC_000010.10:g.8089136T>A , CM000672.1:g.8089136T>A | GRCh37 |
| NC_000010.9:g.8129142T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643001.1:c.-370+1658T>A | ENSP00000494284.1:n.-370+1658T>A | |
| XM_005252443.3:c.-370+1658T>A | XP_005252500.1:n.-370+1658T>A | |
| XM_011519800.1:c.213+134T>A | XP_011518102.1:n.213+134T>A | |
| XM_005252443.5:c.-370+1658T>A | XP_005252500.1:n.-370+1658T>A |