Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.78490789T>C , CM000663.2:g.78490789T>C | GRCh38 |
| NC_000001.10:g.78956474T>C , CM000663.1:g.78956474T>C | GRCh37 |
| NC_000001.9:g.78729062T>C | NCBI36 |
| NG_052997.1:g.4816T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370758.5:c.-72-1883T>C | ENSP00000359794.1:n.-72-1883T>C | |
| XM_006710781.2:c.-72-1883T>C | XP_006710844.1:n.-72-1883T>C |