Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133368988T>C , CM000672.2:g.133368988T>C | GRCh38 |
| NC_000010.10:g.135182492T>C , CM000672.1:g.135182492T>C | GRCh37 |
| NC_000010.9:g.135032482T>C | NCBI36 |
| NG_042077.1:g.9417A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004092.4:c.449A>G MANE Select | NP_004083.3:p.Asp150Gly |
| ENST00000368547.4:c.449A>G MANE Select | ENSP00000357535.3:p.Asp150Gly |
| NM_004092.3:c.449A>G | NP_004083.3:p.Asp150Gly |
| ENST00000368547.3:c.449A>G | ENSP00000357535.3:p.Asp150Gly |
| XR_002956965.1:n.512A>G |