Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30623101G= , CM000672.2:g.30623101G= | GRCh38 |
| NC_000010.10:g.30912030G= , CM000672.1:g.30912030G= | GRCh37 |
| NC_000010.9:g.30952036G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183058.3:c.298+3004C= MANE Select | NP_898881.3:n.298+3004C= |
| ENST00000647634.2:c.298+3004C= MANE Select | ENSP00000497408.1:n.298+3004C= |
| NM_183058.2:c.436+3004C= | NP_898881.2:n.436+3004C= |
| ENST00000375318.3:c.436+3004C= | ENSP00000364467.2:n.436+3004C= |
| ENST00000375318.4:c.436+3004C= | ENSP00000364467.2:n.436+3004C= |
| XM_011519306.1:c.436+3004C= | XP_011517608.1:n.436+3004C= |
| XM_011519306.2:c.436+3004C= | XP_011517608.1:n.436+3004C= |
| XR_930469.1:n.493+3004C= | |
| XR_930469.2:n.492+3004C= |