dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24990569G>C , CM000677.2:g.24990569G>C | GRCh38 |
| NC_000015.9:g.25235716G>C , CM000677.1:g.25235716G>C | GRCh37 |
| NC_000015.8:g.22786809G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551312.6:c.*953+8132G>C | ENSP00000451421.1:n.*953+8132G>C | |
| ENST00000557230.1:c.*400-8401G>C | ENSP00000451898.1:n.*400-8401G>C | |
| NR_146177.1:n.3625-7797G>C |