dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35477121A>G , CM000683.2:g.35477121A>G | GRCh38 |
| NC_000021.8:g.36849419A>G , CM000683.1:g.36849419A>G | GRCh37 |
| NC_000021.7:g.35771289A>G | NCBI36 |
| NG_011402.2:g.512590T>C , LRG_482:g.512590T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467692.5:n.102-15096T>C | ||
| ENST00000475045.6:c.-261-15096T>C | ENSP00000477072.1:n.-261-15096T>C | |
| NR_073512.1:n.106-15096T>C |