Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328670G>A , CM000664.2:g.29328670G>A | GRCh38 |
| NC_000002.11:g.29551536G>A , CM000664.1:g.29551536G>A | GRCh37 |
| NC_000002.10:g.29405040G>A | NCBI36 |
| NG_009445.1:g.597897C>T , LRG_488:g.597897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-189C>T MANE Select | ENSP00000373700.3:n.1283-189C>T | |
| ENST00000389048.7:c.1283-189C>T | ENSP00000373700.3:n.1283-189C>T | |
| ENST00000618119.4:c.152-189C>T | ENSP00000482733.1:n.152-189C>T | |
| NM_004304.4:c.1283-189C>T | NP_004295.2:n.1283-189C>T | |
| XR_939920.1:n.817+161G>A | ||
| XR_939921.1:n.680+6142G>A | ||
| XR_001738688.2:n.2213-189C>T | ||
| XR_939920.2:n.707+161G>A | ||
| XR_939921.2:n.576+6142G>A | ||
| NM_004304.5:c.1283-189C>T MANE Select | NP_004295.2:n.1283-189C>T |