Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148329T>C , CM000670.2:g.38148329T>C | GRCh38 |
| NC_000008.10:g.38005847T>C , CM000670.1:g.38005847T>C | GRCh37 |
| NC_000008.9:g.38125004T>C | NCBI36 |
| NG_011827.1:g.7754A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.179-2A>G MANE Select | NP_000340.2:n.179-2A>G |
| ENST00000276449.9:c.179-2A>G MANE Select | ENSP00000276449.3:n.179-2A>G |
| NM_000349.2:c.179-2A>G | NP_000340.2:n.179-2A>G |
| ENST00000276449.8:c.179-2A>G | ENSP00000276449.3:n.179-2A>G |
| ENST00000520114.1:n.664A>G | |
| ENST00000521236.1:c.-70A>G | ENSP00000430030.1:n.-70A>G |
| ENST00000522050.1:c.115-2A>G | |
| XM_006716392.1:c.179-2A>G | XP_006716455.1:n.179-2A>G |