Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93621931G>C , CM000672.2:g.93621931G>C | GRCh38 |
| NC_000010.10:g.95381688G>C , CM000672.1:g.95381688G>C | GRCh37 |
| NC_000010.9:g.95371678G>C | NCBI36 |
| NG_016752.1:g.14344G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006204.4:c.724-1G>C MANE Select | NP_006195.3:n.724-1G>C |
| ENST00000371447.4:c.724-1G>C MANE Select | ENSP00000360502.3:n.724-1G>C |
| NM_006204.3:c.724-1G>C | NP_006195.3:n.724-1G>C |
| ENST00000371447.3:c.724-1G>C | ENSP00000360502.3:n.724-1G>C |