Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488191C>G , CM000674.2:g.52488191C>G | GRCh38 |
| NC_000012.11:g.52881975C>G , CM000674.1:g.52881975C>G | GRCh37 |
| NC_000012.10:g.51168242C>G | NCBI36 |
| NG_008298.1:g.10207G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1425-88G>C MANE Select | ENSP00000369317.3:n.1425-88G>C | |
| ENST00000330722.6:c.1425-88G>C | ENSP00000369317.3:n.1425-88G>C | |
| NM_005554.3:c.1425-88G>C | NP_005545.1:n.1425-88G>C | |
| NM_005554.4:c.1425-88G>C MANE Select | NP_005545.1:n.1425-88G>C |