Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149884416T>C , CM000663.2:g.149884416T>C | GRCh38 |
| NC_000001.10:g.149855966T>C , CM000663.1:g.149855966T>C | GRCh37 |
| NC_000001.9:g.148122590T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369160.3:c.377+1848A>G | ENSP00000375736.2:n.377+1848A>G |