Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859184C= , CM000664.2:g.135859184C= | GRCh38 |
| NC_000002.11:g.136616754C= , CM000664.1:g.136616754C= | GRCh37 |
| NC_000002.10:g.136333224C= | NCBI36 |
| NG_008104.2:g.986G= , LRG_338:g.986G= | |
| NG_008958.1:g.22258G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1362+117G= MANE Select | ENSP00000264156.2:n.1362+117G= | |
| ENST00000264156.2:c.1362+117G= | ENSP00000264156.2:n.1362+117G= | |
| ENST00000492091.1:n.181+3423G= | ||
| NM_005915.5:c.1362+117G= | NP_005906.2:n.1362+117G= | |
| NM_005915.6:c.1362+117G= MANE Select | NP_005906.2:n.1362+117G= |