Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50911723G= , CM000676.2:g.50911723G= | GRCh38 |
| NC_000014.8:g.51378441G= , CM000676.1:g.51378441G= | GRCh37 |
| NC_000014.7:g.50448191G= | NCBI36 |
| NG_012796.1:g.37808C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1969+7C= MANE Select | ENSP00000216392.7:n.1969+7C= | |
| ENST00000216392.7:c.1969+7C= | ENSP00000216392.7:n.1969+7C= | |
| ENST00000532107.2:n.142+7C= | ||
| ENST00000532462.5:c.1969+7C= | ENSP00000431657.1:n.1969+7C= | |
| ENST00000544180.6:c.1867+7C= | ENSP00000443787.1:n.1867+7C= | |
| NM_001163940.1:c.1867+7C= | NP_001157412.1:n.1867+7C= | |
| NM_002863.4:c.1969+7C= | NP_002854.3:n.1969+7C= | |
| NM_002863.5:c.1969+7C= MANE Select | NP_002854.3:n.1969+7C= | |
| NM_001163940.2:c.1867+7C= | NP_001157412.1:n.1867+7C= |