Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10973171G= , CM000663.2:g.10973171G= | GRCh38 |
| NC_000001.10:g.11033228G= , CM000663.1:g.11033228G= | GRCh37 |
| NC_000001.9:g.10955815G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377004.9:c.127+2985C= MANE Select | ENSP00000366203.4:n.127+2985C= | |
| ENST00000377004.8:c.127+2985C= | ENSP00000366203.4:n.127+2985C= | |
| ENST00000520253.1:c.60+2985C= | ||
| NM_001170754.1:c.127+2985C= | NP_001164225.1:n.127+2985C= | |
| NM_001170754.2:c.127+2985C= MANE Select | NP_001164225.1:n.127+2985C= |