Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328294C= , CM000664.2:g.29328294C= | GRCh38 |
| NC_000002.11:g.29551160C= , CM000664.1:g.29551160C= | GRCh37 |
| NC_000002.10:g.29404664C= | NCBI36 |
| NG_009445.1:g.598273G= , LRG_488:g.598273G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1414+56G= MANE Select | ENSP00000373700.3:n.1414+56G= | |
| ENST00000389048.7:c.1414+56G= | ENSP00000373700.3:n.1414+56G= | |
| ENST00000618119.4:c.283+56G= | ENSP00000482733.1:n.283+56G= | |
| NM_004304.4:c.1414+56G= | NP_004295.2:n.1414+56G= | |
| XR_939920.1:n.693-91C= | ||
| XR_939921.1:n.680+5766C= | ||
| XR_001738688.2:n.2344+56G= | ||
| XR_244977.4:n.1786C= | ||
| XR_939920.2:n.583-91C= | ||
| XR_939921.2:n.576+5766C= | ||
| XR_939922.2:n.1826C= | ||
| NM_004304.5:c.1414+56G= MANE Select | NP_004295.2:n.1414+56G= |