Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226975A= , CM000664.2:g.29226975A= | GRCh38 |
| NC_000002.11:g.29449841A= , CM000664.1:g.29449841A= | GRCh37 |
| NC_000002.10:g.29303345A= | NCBI36 |
| NG_009445.1:g.699592T= , LRG_488:g.699592T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3014T= MANE Select | ENSP00000373700.3:p.Ile1005= | |
| ENST00000431873.6:c.180T= | ||
| ENST00000389048.7:c.3014T= | ENSP00000373700.3:p.Ile1005= | |
| ENST00000618119.4:c.1883T= | ENSP00000482733.1:p.Ile628= | |
| NM_004304.4:c.3014T= | NP_004295.2:p.Ile1005= | |
| XM_024452778.1:c.167T= | XP_024308546.1:p.Ile56= | |
| XR_001738688.2:n.3870T= | ||
| NM_004304.5:c.3014T= MANE Select | NP_004295.2:p.Ile1005= |