Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243768T>G , CM000673.2:g.72243768T>G | GRCh38 |
| NC_000011.9:g.71954812T>G , CM000673.1:g.71954812T>G | GRCh37 |
| NC_000011.8:g.71632460T>G | NCBI36 |
| NG_008169.1:g.5409A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+20A>C MANE Select | ENSP00000298231.5:n.217+20A>C | |
| ENST00000544057.1:n.85+1812A>C | ||
| NM_005169.3:c.217+20A>C | NP_005160.2:n.217+20A>C | |
| NM_005169.4:c.217+20A>C MANE Select | NP_005160.2:n.217+20A>C |