Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431579A>G , CM000663.2:g.229431579A>G | GRCh38 |
| NC_000001.10:g.229567326A>G , CM000663.1:g.229567326A>G | GRCh37 |
| NC_000001.9:g.227633949A>G | NCBI36 |
| NG_006672.1:g.7518T>C , LRG_429:g.7518T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1054T>C MANE Select | NP_001091.1:p.Ser352Pro |
| ENST00000366684.7:c.1054T>C MANE Select | ENSP00000355645.3:p.Ser352Pro |
| NM_001100.3:c.1054T>C , LRG_429t1:c.1054T>C | NP_001091.1:p.Ser352Pro |
| ENST00000366683.3:c.685T>C | ENSP00000355644.3:p.Ser229Pro |
| ENST00000366683.4:c.991-15T>C | ENSP00000355644.4:n.991-15T>C |
| ENST00000684723.1:c.919T>C | ENSP00000508084.1:p.Ser307Pro |