Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73870427A>C , CM000666.2:g.73870427A>C | GRCh38 |
| NC_000004.11:g.74736144A>C , CM000666.1:g.74736144A>C | GRCh37 |
| NC_000004.10:g.74955008A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395761.4:c.309-94A>C MANE Select | ENSP00000379110.3:n.309-94A>C | |
| ENST00000395761.3:c.309-94A>C | ENSP00000379110.3:n.309-94A>C | |
| NM_001511.3:c.309-94A>C | NP_001502.1:n.309-94A>C | |
| NR_046035.1:n.411-94A>C | ||
| NM_001511.4:c.309-94A>C MANE Select | NP_001502.1:n.309-94A>C | |
| NR_046035.2:n.410-94A>C |