dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89985681A>T , CM000670.2:g.89985681A>T | GRCh38 |
| NC_000008.10:g.90997909A>T , CM000670.1:g.90997909A>T | GRCh37 |
| NC_000008.9:g.91067085A>T | NCBI36 |
| NG_008860.1:g.3991T>A , LRG_158:g.3991T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396252.6:c.-229-708T>A | ENSP00000379551.2:n.-229-708T>A |