Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780481T>C , CM000672.2:g.94780481T>C | GRCh38 |
| NC_000010.10:g.96540238T>C , CM000672.1:g.96540238T>C | GRCh37 |
| NC_000010.9:g.96530228T>C | NCBI36 |
| NG_008384.2:g.22776T>C | |
| NG_008384.3:g.22801T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.482-18T>C MANE Select | NP_000760.1:n.482-18T>C |
| ENST00000371321.9:c.482-18T>C MANE Select | ENSP00000360372.3:n.482-18T>C |
| NM_000769.2:c.482-18T>C | NP_000760.1:n.482-18T>C |
| ENST00000371321.7:c.482-18T>C | ENSP00000360372.3:n.482-18T>C |
| ENST00000464755.1:c.1245-18T>C | ENSP00000483243.1:n.1245-18T>C |
| ENST00000645461.1:n.1535-18T>C |