Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492525C>T , CM000674.2:g.52492525C>T | GRCh38 |
| NC_000012.11:g.52886309C>T , CM000674.1:g.52886309C>T | GRCh37 |
| NC_000012.10:g.51172576C>T | NCBI36 |
| NG_008298.1:g.5873G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.540+124G>A MANE Select | ENSP00000369317.3:n.540+124G>A | |
| ENST00000330722.6:c.540+124G>A | ENSP00000369317.3:n.540+124G>A | |
| ENST00000549898.5:n.61+124G>A | ||
| NM_005554.3:c.540+124G>A | NP_005545.1:n.540+124G>A | |
| NM_005554.4:c.540+124G>A MANE Select | NP_005545.1:n.540+124G>A |