Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.28177009G>A , CM000680.2:g.28177009G>A | GRCh38 |
| NC_000018.9:g.25756973G>A , CM000680.1:g.25756973G>A | GRCh37 |
| NC_000018.8:g.24010971G>A | NCBI36 |
| NG_011959.1:g.5473C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001792.5:c.14C>T MANE Select | NP_001783.2:p.Ala5Val |
| ENST00000269141.8:c.14C>T MANE Select | ENSP00000269141.3:p.Ala5Val |
| NM_001792.3:c.14C>T | NP_001783.2:p.Ala5Val |
| NM_001792.4:c.14C>T | NP_001783.2:p.Ala5Val |
| ENST00000269141.7:c.14C>T | ENSP00000269141.3:p.Ala5Val |
| ENST00000413878.2:c.-389C>T | ENSP00000414269.2:n.-389C>T |
| ENST00000430882.6:c.-434C>T | ENSP00000412120.2:n.-434C>T |
| ENST00000676445.1:c.-196+854C>T | ENSP00000502206.1:n.-196+854C>T |
| XM_017025514.2:c.14C>T | XP_016881003.1:p.Ala5Val |