dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35316230A>G , CM000683.2:g.35316230A>G | GRCh38 |
| NC_000021.8:g.36688528A>G , CM000683.1:g.36688528A>G | GRCh37 |
| NC_000021.7:g.35610398A>G | NCBI36 |
| NG_011402.2:g.673481T>C , LRG_482:g.673481T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475045.6:c.-197+145731T>C | ENSP00000477072.1:n.-197+145731T>C |