Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135856685G= , CM000664.2:g.135856685G= | GRCh38 |
| NC_000002.11:g.136614255G= , CM000664.1:g.136614255G= | GRCh37 |
| NC_000002.10:g.136330725G= | NCBI36 |
| NG_008104.2:g.3485C= , LRG_338:g.3485C= | |
| NG_008958.1:g.24757C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005915.6:c.1626+43C= MANE Select | NP_005906.2:n.1626+43C= |
| ENST00000264156.3:c.1626+43C= MANE Select | ENSP00000264156.2:n.1626+43C= |
| NM_005915.5:c.1626+43C= | NP_005906.2:n.1626+43C= |
| ENST00000264156.2:c.1626+43C= | ENSP00000264156.2:n.1626+43C= |
| ENST00000492091.1:n.182-5122C= |