Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72918408A>G , CM000671.2:g.72918408A>G | GRCh38 |
| NC_000009.11:g.75533324A>G , CM000671.1:g.75533324A>G | GRCh37 |
| NC_000009.10:g.74723144A>G | NCBI36 |
| NG_012249.1:g.39646T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297785.8:c.850+312T>C MANE Select | ENSP00000297785.3:n.850+312T>C | |
| ENST00000297785.7:c.850+312T>C | ENSP00000297785.3:n.850+312T>C | |
| ENST00000376939.5:c.678-1351T>C | ENSP00000366138.1:n.678-1351T>C | |
| NM_000689.4:c.850+312T>C | NP_000680.2:n.850+312T>C | |
| NM_000689.5:c.850+312T>C MANE Select | NP_000680.2:n.850+312T>C |