Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1512261G= , CM000663.2:g.1512261G= | GRCh38 |
| NC_000001.10:g.1447641G= , CM000663.1:g.1447641G= | GRCh37 |
| NC_000001.9:g.1437504G= | NCBI36 |
| NG_053035.1:g.5119G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378756.8:c.-8G= MANE Select | ENSP00000368031.3:n.-8G= | |
| ENST00000672388.1:n.97G= | ||
| ENST00000378755.9:c.-8G= | ENSP00000368030.5:n.-8G= | |
| ENST00000378756.7:c.-8G= | ENSP00000368031.3:n.-8G= | |
| NM_001170535.1:c.-8G= | NP_001164006.1:n.-8G= | |
| NM_018188.3:c.-8G= | NP_060658.3:n.-8G= | |
| NM_001170535.2:c.-8G= | NP_001164006.1:n.-8G= | |
| NM_018188.4:c.-8G= | NP_060658.3:n.-8G= | |
| XM_024448098.1:c.-8G= | XP_024303866.1:n.-8G= | |
| XR_001737282.1:n.119G= | ||
| XR_002956997.1:n.119G= | ||
| NM_001170535.3:c.-8G= MANE Select | NP_001164006.1:n.-8G= | |
| NM_018188.5:c.-8G= | NP_060658.3:n.-8G= |