Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226993G= , CM000664.2:g.29226993G= | GRCh38 |
| NC_000002.11:g.29449859G= , CM000664.1:g.29449859G= | GRCh37 |
| NC_000002.10:g.29303363G= | NCBI36 |
| NG_009445.1:g.699574C= , LRG_488:g.699574C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2996C= MANE Select | ENSP00000373700.3:p.Pro999= | |
| ENST00000431873.6:c.162C= | ||
| ENST00000389048.7:c.2996C= | ENSP00000373700.3:p.Pro999= | |
| ENST00000618119.4:c.1865C= | ENSP00000482733.1:p.Pro622= | |
| NM_004304.4:c.2996C= | NP_004295.2:p.Pro999= | |
| XM_024452778.1:c.149C= | XP_024308546.1:p.Pro50= | |
| XR_001738688.2:n.3852C= | ||
| NM_004304.5:c.2996C= MANE Select | NP_004295.2:p.Pro999= |