Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703774C>T , CM000677.2:g.66703774C>T | GRCh38 |
| NC_000015.9:g.66996112C>T , CM000677.1:g.66996112C>T | GRCh37 |
| NC_000015.8:g.64783166C>T | NCBI36 |
| NG_012244.1:g.6439C>T | |
| NG_012244.2:g.6439C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.516C>T MANE Select | NP_005576.3:p.Leu172= |
| ENST00000288840.10:c.516C>T MANE Select | ENSP00000288840.5:p.Leu172= |
| NM_005585.4:c.516C>T | NP_005576.3:p.Leu172= |
| NR_027654.1:n.1439C>T | |
| NR_027654.2:n.1539C>T | |
| ENST00000288840.9:c.516C>T | ENSP00000288840.5:p.Leu172= |
| ENST00000557916.5:c.516C>T | ENSP00000452955.1:p.Leu172= |
| ENST00000612349.1:n.698C>T | |
| XR_931825.1:n.1675C>T | |
| XR_931826.1:n.1675C>T | |
| XR_931827.1:n.1675C>T | |
| XR_931827.2:n.1665C>T |