Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137138632G>C , CM000671.2:g.137138632G>C | GRCh38 |
| NC_000009.11:g.140033084G>C , CM000671.1:g.140033084G>C | GRCh37 |
| NC_000009.10:g.139152905G>C | NCBI36 |
| NG_011507.1:g.4476G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000371560.5:c.-855G>C | ENSP00000360615.3:n.-855G>C |
| ENST00000371561.7:c.-855G>C | ENSP00000360616.3:n.-855G>C |