Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196729G>C , CM000663.2:g.53196729G>C | GRCh38 |
| NC_000001.10:g.53662401G>C , CM000663.1:g.53662401G>C | GRCh37 |
| NC_000001.9:g.53434989G>C | NCBI36 |
| NG_008035.1:g.5301G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-215G>C | ENSP00000360541.3:n.-215G>C | |
| NM_000098.2:c.-215G>C | NP_000089.1:n.-215G>C | |
| NM_001330589.1:c.-215G>C | NP_001317518.1:n.-215G>C |