Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2092276C= , CM000670.2:g.2092276C= | GRCh38 |
| NC_000008.9:g.2027511C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262113.9:c.1829-70C= MANE Select | ENSP00000262113.4:n.1829-70C= | |
| ENST00000262113.8:c.1829-70C= | ENSP00000262113.4:n.1829-70C= | |
| ENST00000518803.1:n.335-70C= | ||
| ENST00000523438.1:c.104-70C= | ENSP00000428396.1:n.104-70C= | |
| NM_003970.3:c.1829-70C= | NP_003961.3:n.1829-70C= | |
| XM_006716237.1:c.1829-70C= | XP_006716300.1:n.1829-70C= | |
| NM_003970.4:c.1829-70C= MANE Select | NP_003961.3:n.1829-70C= |