Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418471G>C , CM000663.2:g.94418471G>C | GRCh38 |
| NC_000001.10:g.94884027G>C , CM000663.1:g.94884027G>C | GRCh37 |
| NC_000001.9:g.94656615G>C | NCBI36 |
| NG_008865.1:g.5095G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-8G>C MANE Select | ENSP00000359233.4:n.-8G>C | |
| ENST00000647998.2:c.-8G>C | ENSP00000497921.2:n.-8G>C | |
| ENST00000370214.8:c.-8G>C | ENSP00000359233.4:n.-8G>C | |
| NM_001122674.1:c.-8G>C | NP_001116146.1:n.-8G>C | |
| NM_002858.3:c.-8G>C | NP_002849.1:n.-8G>C | |
| XM_006710802.2:c.-8G>C | XP_006710865.2:n.-8G>C | |
| NM_002858.4:c.-8G>C MANE Select | NP_002849.1:n.-8G>C | |
| NM_001122674.2:c.-8G>C | NP_001116146.1:n.-8G>C |