Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12081668A>C , CM000672.2:g.12081668A>C | GRCh38 |
| NC_000010.10:g.12123667A>C , CM000672.1:g.12123667A>C | GRCh37 |
| NC_000010.9:g.12163673A>C | NCBI36 |
| NG_033248.1:g.17752A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.310+41A>C MANE Select | NP_061176.4:n.310+41A>C |
| ENST00000263035.9:c.310+41A>C MANE Select | ENSP00000263035.4:n.310+41A>C |
| NM_018706.6:c.310+41A>C | NP_061176.3:n.310+41A>C |
| ENST00000263035.8:c.310+41A>C | ENSP00000263035.4:n.310+41A>C |
| ENST00000437298.1:c.310+41A>C | ENSP00000388163.1:n.310+41A>C |
| ENST00000465617.1:n.104+41A>C |