Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363462G>C , CM000682.2:g.38363462G>C | GRCh38 |
| NC_000020.10:g.36992116G>C , CM000682.1:g.36992116G>C | GRCh37 |
| NC_000020.9:g.36425530G>C | NCBI36 |
| NG_034239.1:g.22052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.653-513G>C MANE Select | ENSP00000217407.2:n.653-513G>C | |
| ENST00000217407.2:c.653-513G>C | ENSP00000217407.2:n.653-513G>C | |
| NM_004139.4:c.653-513G>C | NP_004130.2:n.653-513G>C | |
| NM_004139.5:c.653-513G>C MANE Select | NP_004130.2:n.653-513G>C |