dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.2489827G>T , CM000672.2:g.2489827G>T | GRCh38 |
| NC_000010.10:g.2532019G>T , CM000672.1:g.2532019G>T | GRCh37 |
| NC_000010.9:g.2522019G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519769.1:c.390+11731C>A | XP_011518071.1:n.390+11731C>A | |
| XM_011519771.1:c.390+11731C>A | XP_011518073.1:n.390+11731C>A | |
| XM_011519772.1:c.390+11731C>A | XP_011518074.1:n.390+11731C>A | |
| XM_011519775.1:c.264+11857C>A | XP_011518077.1:n.264+11857C>A | |
| XM_011519777.1:c.264+11857C>A | XP_011518079.1:n.264+11857C>A | |
| XM_011519778.1:c.264+11857C>A | XP_011518080.1:n.264+11857C>A | |
| NR_136146.1:n.89+11547C>A |