dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14972978A>C , CM000673.2:g.14972978A>C | GRCh38 |
| NC_000011.9:g.14994524A>C , CM000673.1:g.14994524A>C | GRCh37 |
| NC_000011.8:g.14951100A>C | NCBI36 |
| NG_015960.1:g.4309T>G , LRG_13:g.4309T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523376.5:c.-445-4913A>C | ENSP00000428882.1:n.-445-4913A>C |