Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701852C>A , CM000669.2:g.107701852C>A | GRCh38 |
| NC_000007.13:g.107342297C>A , CM000669.1:g.107342297C>A | GRCh37 |
| NC_000007.12:g.107129533C>A | NCBI36 |
| NG_008489.1:g.46218C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1829C>A MANE Select | ENSP00000494017.1:p.Ser610Ter | |
| ENST00000644846.1:c.540C>A | ||
| ENST00000265715.7:c.1829C>A | ENSP00000265715.3:p.Ser610Ter | |
| ENST00000480841.5:n.678C>A | ||
| ENST00000492030.2:n.116C>A | ||
| NM_000441.1:c.1829C>A | NP_000432.1:p.Ser610Ter | |
| XM_005250425.1:c.1829C>A | XP_005250482.1:p.Ser610Ter | |
| XM_005250425.2:c.1829C>A | XP_005250482.1:p.Ser610Ter | |
| XM_017012318.1:c.1751C>A | XP_016867807.1:p.Ser584Ter | |
| NM_000441.2:c.1829C>A MANE Select | NP_000432.1:p.Ser610Ter |