Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492607G>C , CM000674.2:g.52492607G>C | GRCh38 |
| NC_000012.11:g.52886391G>C , CM000674.1:g.52886391G>C | GRCh37 |
| NC_000012.10:g.51172658G>C | NCBI36 |
| NG_008298.1:g.5791C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.540+42C>G MANE Select | ENSP00000369317.3:n.540+42C>G | |
| ENST00000330722.6:c.540+42C>G | ENSP00000369317.3:n.540+42C>G | |
| ENST00000549898.5:n.61+42C>G | ||
| NM_005554.3:c.540+42C>G | NP_005545.1:n.540+42C>G | |
| NM_005554.4:c.540+42C>G MANE Select | NP_005545.1:n.540+42C>G |