Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119401730G>C , CM000665.2:g.119401730G>C | GRCh38 |
| NC_000003.11:g.119120577G>C , CM000665.1:g.119120577G>C | GRCh37 |
| NC_000003.10:g.120603267G>C | NCBI36 |
| NG_007665.2:g.112358G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1070-92G>C MANE Select | ENSP00000264245.4:n.1070-92G>C | |
| ENST00000264245.8:c.1070-92G>C | ENSP00000264245.4:n.1070-92G>C | |
| NM_020754.3:c.1070-92G>C | NP_065805.2:n.1070-92G>C | |
| XM_005247671.3:c.977-92G>C | XP_005247728.1:n.977-92G>C | |
| XM_006713714.2:c.1070-152G>C | XP_006713777.1:n.1070-152G>C | |
| XR_924388.1:n.85C>G | ||
| XM_006713714.3:c.1070-152G>C | XP_006713777.1:n.1070-152G>C | |
| XM_017006955.1:c.578-92G>C | XP_016862444.1:n.578-92G>C | |
| NM_020754.4:c.1070-92G>C MANE Select | NP_065805.2:n.1070-92G>C |