Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676099A>C , CM000669.2:g.152676099A>C | GRCh38 |
| NC_000007.13:g.152373184A>C , CM000669.1:g.152373184A>C | GRCh37 |
| NC_000007.12:g.152004117A>C | NCBI36 |
| NG_027988.1:g.5067T>G | |
| NG_027988.2:g.5067T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-106T>G | ENSP00000513758.1:n.-106T>G | |
| ENST00000698507.1:n.49T>G | ||
| ENST00000359321.2:c.-20T>G MANE Select | ENSP00000352271.1:n.-20T>G | |
| ENST00000359321.1:c.-20T>G | ENSP00000352271.1:n.-20T>G | |
| NM_005431.1:c.-20T>G | NP_005422.1:n.-20T>G | |
| NM_005431.2:c.-20T>G MANE Select | NP_005422.1:n.-20T>G |