Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328774G= , CM000664.2:g.29328774G= | GRCh38 |
| NC_000002.11:g.29551640G= , CM000664.1:g.29551640G= | GRCh37 |
| NC_000002.10:g.29405144G= | NCBI36 |
| NG_009445.1:g.597793C= , LRG_488:g.597793C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-293C= MANE Select | ENSP00000373700.3:n.1283-293C= | |
| ENST00000389048.7:c.1283-293C= | ENSP00000373700.3:n.1283-293C= | |
| ENST00000618119.4:c.152-293C= | ENSP00000482733.1:n.152-293C= | |
| NM_004304.4:c.1283-293C= | NP_004295.2:n.1283-293C= | |
| XR_939920.1:n.818-151G= | ||
| XR_939921.1:n.680+6246G= | ||
| XR_001738688.2:n.2213-293C= | ||
| XR_939920.2:n.708-151G= | ||
| XR_939921.2:n.576+6246G= | ||
| NM_004304.5:c.1283-293C= MANE Select | NP_004295.2:n.1283-293C= |