Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432270C>T , CM000663.2:g.229432270C>T | GRCh38 |
| NC_000001.10:g.229568017C>T , CM000663.1:g.229568017C>T | GRCh37 |
| NC_000001.9:g.227634640C>T | NCBI36 |
| NG_006672.1:g.6827G>A , LRG_429:g.6827G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.616G>A | ENSP00000355644.4:p.Ala206Thr | |
| ENST00000684723.1:c.481G>A | ENSP00000508084.1:p.Ala161Thr | |
| ENST00000366683.3:c.479+137G>A | ENSP00000355644.3:n.479+137G>A | |
| ENST00000366684.7:c.616G>A MANE Select | ENSP00000355645.3:p.Ala206Thr | |
| NM_001100.3:c.616G>A , LRG_429t1:c.616G>A | NP_001091.1:p.Ala206Thr | |
| NM_001100.4:c.616G>A MANE Select | NP_001091.1:p.Ala206Thr |