Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492613C>G , CM000674.2:g.52492613C>G | GRCh38 |
| NC_000012.11:g.52886397C>G , CM000674.1:g.52886397C>G | GRCh37 |
| NC_000012.10:g.51172664C>G | NCBI36 |
| NG_008298.1:g.5785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.540+36G>C MANE Select | ENSP00000369317.3:n.540+36G>C | |
| ENST00000330722.6:c.540+36G>C | ENSP00000369317.3:n.540+36G>C | |
| ENST00000549898.5:n.61+36G>C | ||
| NM_005554.3:c.540+36G>C | NP_005545.1:n.540+36G>C | |
| NM_005554.4:c.540+36G>C MANE Select | NP_005545.1:n.540+36G>C |