Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363237T>C , CM000682.2:g.38363237T>C | GRCh38 |
| NC_000020.10:g.36991891T>C , CM000682.1:g.36991891T>C | GRCh37 |
| NC_000020.9:g.36425305T>C | NCBI36 |
| NG_034239.1:g.21827T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004139.5:c.653-738T>C MANE Select | NP_004130.2:n.653-738T>C |
| ENST00000217407.3:c.653-738T>C MANE Select | ENSP00000217407.2:n.653-738T>C |
| NM_004139.4:c.653-738T>C | NP_004130.2:n.653-738T>C |
| ENST00000217407.2:c.653-738T>C | ENSP00000217407.2:n.653-738T>C |