Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179143930T>G , CM000667.2:g.179143930T>G | GRCh38 |
| NC_000005.9:g.178570931T>G , CM000667.1:g.178570931T>G | GRCh37 |
| NC_000005.8:g.178503537T>G | NCBI36 |
| NG_023212.2:g.206399A>C | |
| NG_023212.3:g.206399A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.1630-3895A>C | ENSP00000514008.1:n.1630-3895A>C | |
| ENST00000251582.12:c.1630-3895A>C MANE Select | ENSP00000251582.7:n.1630-3895A>C | |
| ENST00000518335.3:c.1630-3895A>C | ENSP00000489888.2:n.1630-3895A>C | |
| ENST00000251582.11:c.1630-3895A>C | ENSP00000251582.7:n.1630-3895A>C | |
| NM_014244.4:c.1630-3895A>C | NP_055059.2:n.1630-3895A>C | |
| NM_014244.5:c.1630-3895A>C MANE Select | NP_055059.2:n.1630-3895A>C |