Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488206C>T , CM000674.2:g.52488206C>T | GRCh38 |
| NC_000012.11:g.52881990C>T , CM000674.1:g.52881990C>T | GRCh37 |
| NC_000012.10:g.51168257C>T | NCBI36 |
| NG_008298.1:g.10192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1425-103G>A MANE Select | ENSP00000369317.3:n.1425-103G>A | |
| ENST00000330722.6:c.1425-103G>A | ENSP00000369317.3:n.1425-103G>A | |
| NM_005554.3:c.1425-103G>A | NP_005545.1:n.1425-103G>A | |
| NM_005554.4:c.1425-103G>A MANE Select | NP_005545.1:n.1425-103G>A |