Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69858183A>G , CM000666.2:g.69858183A>G | GRCh38 |
| NC_000004.11:g.70723901A>G , CM000666.1:g.70723901A>G | GRCh37 |
| NC_000004.10:g.70758490A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226444.4:c.-9-530T>C MANE Select | ENSP00000226444.3:n.-9-530T>C | |
| ENST00000226444.3:c.-9-530T>C | ENSP00000226444.3:n.-9-530T>C | |
| ENST00000504002.1:n.98-530T>C | ||
| NM_005420.2:c.-9-530T>C | NP_005411.1:n.-9-530T>C | |
| XM_011532209.1:c.-9-530T>C | XP_011530511.1:n.-9-530T>C | |
| XM_011532210.1:c.-9-530T>C | XP_011530512.1:n.-9-530T>C | |
| XM_011532210.2:c.-9-530T>C | XP_011530512.1:n.-9-530T>C | |
| NM_005420.3:c.-9-530T>C MANE Select | NP_005411.1:n.-9-530T>C |