dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152520678G>C , CM000663.2:g.152520678G>C | GRCh38 |
| NC_000001.10:g.152493154G>C , CM000663.1:g.152493154G>C | GRCh37 |
| NC_000001.9:g.150759778G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617545.1:c.44+9100G>C | ENSP00000482477.1:n.44+9100G>C |