Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160260361A>C , CM000668.2:g.160260361A>C | GRCh38 |
| NC_000006.11:g.160681393A>C , CM000668.1:g.160681393A>C | GRCh37 |
| NC_000006.10:g.160601383A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366952.1:c.-970T>G | ENSP00000355919.1:n.-970T>G |