Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085122C= , CM000664.2:g.27085122C= | GRCh38 |
| NC_000002.11:g.27307990C= , CM000664.1:g.27307990C= | GRCh37 |
| NC_000002.10:g.27161494C= | NCBI36 |
| NG_012199.1:g.3380C= | |
| NG_046849.1:g.11556C= | |
| NG_012199.2:g.3380C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2576-38C= MANE Select | ENSP00000369677.4:n.2576-38C= | |
| ENST00000380320.8:c.2576-38C= | ENSP00000369677.4:n.2576-38C= | |
| ENST00000433140.1:c.568-38C= | ||
| NM_007046.3:c.2576-38C= | NP_008977.1:n.2576-38C= | |
| XM_006711928.2:c.2575+114C= | XP_006711991.1:n.2575+114C= | |
| NM_007046.4:c.2576-38C= MANE Select | NP_008977.1:n.2576-38C= |