Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47302786C>T , CM000679.2:g.47302786C>T | GRCh38 |
| NC_000017.10:g.45380152C>T , CM000679.1:g.45380152C>T | GRCh37 |
| NC_000017.9:g.42735151C>T | NCBI36 |
| NG_008332.2:g.53945C>T , LRG_481:g.53945C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.2080C>T MANE Select | NP_000203.2:p.Gln694Ter |
| ENST00000559488.7:c.2080C>T MANE Select | ENSP00000452786.2:p.Gln694Ter |
| NM_000212.2:c.2080C>T , LRG_481t1:c.2080C>T | NP_000203.2:p.Gln694Ter |
| ENST00000559488.5:c.2080C>T | ENSP00000452786.1:p.Gln694Ter |
| ENST00000560629.1:c.2045C>T | |
| ENST00000696963.1:c.2080C>T | ENSP00000513002.1:p.Gln694Ter |