dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.14812027A>T , CM000666.2:g.14812027A>T | GRCh38 |
| NC_000004.11:g.14813651A>T , CM000666.1:g.14813651A>T | GRCh37 |
| NC_000004.10:g.14422749A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126435.1:n.185+47516T>A |