Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29916983C= , CM000664.2:g.29916983C= | GRCh38 |
| NC_000002.11:g.30139849C= , CM000664.1:g.30139849C= | GRCh37 |
| NC_000002.10:g.29993353C= | NCBI36 |
| NG_009445.1:g.9584G= , LRG_488:g.9584G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.667+3010G= MANE Select | ENSP00000373700.3:n.667+3010G= | |
| ENST00000389048.7:c.667+3010G= | ENSP00000373700.3:n.667+3010G= | |
| NM_004304.4:c.667+3010G= | NP_004295.2:n.667+3010G= | |
| XR_001738688.2:n.1597+3010G= | ||
| NM_004304.5:c.667+3010G= MANE Select | NP_004295.2:n.667+3010G= |