Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52322163G>C , CM000676.2:g.52322163G>C | GRCh38 |
| NC_000014.8:g.52788881G>C , CM000676.1:g.52788881G>C | GRCh37 |
| NC_000014.7:g.51858631G>C | NCBI36 |
| NG_013082.1:g.12866G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245457.6:c.844-5058G>C MANE Select | ENSP00000245457.5:n.844-5058G>C | |
| ENST00000245457.5:c.844-5058G>C | ENSP00000245457.5:n.844-5058G>C | |
| ENST00000557436.1:c.79-5058G>C | ENSP00000450933.1:n.79-5058G>C | |
| NM_000956.3:c.844-5058G>C | NP_000947.2:n.844-5058G>C | |
| NM_000956.4:c.844-5058G>C MANE Select | NP_000947.2:n.844-5058G>C |