Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148825809A>C , CM000667.2:g.148825809A>C | GRCh38 |
| NC_000005.9:g.148205372A>C , CM000667.1:g.148205372A>C | GRCh37 |
| NC_000005.8:g.148185565A>C | NCBI36 |
| NG_016421.1:g.4217A>C | |
| NG_016421.2:g.4217A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305988.5:c.-1023A>C | ENSP00000305372.4:n.-1023A>C |