Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107698111C>T , CM000669.2:g.107698111C>T | GRCh38 |
| NC_000007.13:g.107338556C>T , CM000669.1:g.107338556C>T | GRCh37 |
| NC_000007.12:g.107125792C>T | NCBI36 |
| NG_008489.1:g.42477C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1614C>T MANE Select | NP_000432.1:p.Asn538= |
| ENST00000644269.2:c.1614C>T MANE Select | ENSP00000494017.1:p.Asn538= |
| NM_000441.1:c.1614C>T | NP_000432.1:p.Asn538= |
| ENST00000265715.7:c.1614C>T | ENSP00000265715.3:p.Asn538= |
| ENST00000477350.5:n.461C>T | |
| ENST00000480841.5:n.463C>T | |
| ENST00000644846.1:c.325C>T | |
| XM_005250425.1:c.1614C>T | XP_005250482.1:p.Asn538= |
| XM_005250425.2:c.1614C>T | XP_005250482.1:p.Asn538= |
| XM_017012318.1:c.1536C>T | XP_016867807.1:p.Asn512= |