Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149287757T>C , CM000668.2:g.149287757T>C | GRCh38 |
| NC_000006.11:g.149608893T>C , CM000668.1:g.149608893T>C | GRCh37 |
| NC_000006.10:g.149650586T>C | NCBI36 |
| NG_021386.2:g.74834T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+68981T>C | ENSP00000476139.1:n.-121+68981T>C | |
| NM_001292035.2:c.6+68981T>C | NP_001278964.1:n.6+68981T>C | |
| NM_001292035.3:c.6+68981T>C | NP_001278964.1:n.6+68981T>C |