Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371278G>C , CM000676.2:g.76371278G>C | GRCh38 |
| NC_000014.8:g.76837621G>C , CM000676.1:g.76837621G>C | GRCh37 |
| NC_000014.7:g.75907374G>C | NCBI36 |
| NG_012278.1:g.4932G>C | |
| NG_012278.2:g.4932G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60362G>C | ENSP00000424992.2:n.2+60362G>C | |
| ENST00000505752.5:c.-440G>C | ENSP00000423004.1:n.-440G>C | |
| ENST00000512784.5:c.2+60362G>C | ENSP00000424992.1:n.2+60362G>C | |
| NM_004452.4:c.-440G>C | NP_004443.3:n.-440G>C |