Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492648C>A , CM000674.2:g.52492648C>A | GRCh38 |
| NC_000012.11:g.52886432C>A , CM000674.1:g.52886432C>A | GRCh37 |
| NC_000012.10:g.51172699C>A | NCBI36 |
| NG_008298.1:g.5750G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.540+1G>T MANE Select | ENSP00000369317.3:n.540+1G>T | |
| ENST00000330722.6:c.540+1G>T | ENSP00000369317.3:n.540+1G>T | |
| ENST00000549898.5:n.61+1G>T | ||
| NM_005554.3:c.540+1G>T | NP_005545.1:n.540+1G>T | |
| NM_005554.4:c.540+1G>T MANE Select | NP_005545.1:n.540+1G>T |