Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27523141T>C , CM000664.2:g.27523141T>C | GRCh38 |
| NC_000002.11:g.27746008T>C , CM000664.1:g.27746008T>C | GRCh37 |
| NC_000002.10:g.27599512T>C | NCBI36 |
| NG_028024.1:g.31303T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001486.4:c.1708-128T>C MANE Select | NP_001477.2:n.1708-128T>C |
| ENST00000264717.7:c.1708-128T>C MANE Select | ENSP00000264717.2:n.1708-128T>C |
| NM_001486.3:c.1708-128T>C | NP_001477.2:n.1708-128T>C |
| ENST00000264717.6:c.1708-128T>C | ENSP00000264717.2:n.1708-128T>C |
| XM_011532761.1:c.1555-128T>C | XP_011531063.1:n.1555-128T>C |
| XM_011532762.1:c.1138-128T>C | XP_011531064.1:n.1138-128T>C |
| XM_017003796.1:c.1138-128T>C | XP_016859285.1:n.1138-128T>C |
| XM_017003797.1:c.1138-128T>C | XP_016859286.1:n.1138-128T>C |