Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431633G= , CM000663.2:g.229431633G= | GRCh38 |
| NC_000001.10:g.229567380G= , CM000663.1:g.229567380G= | GRCh37 |
| NC_000001.9:g.227634003G= | NCBI36 |
| NG_006672.1:g.7464C= , LRG_429:g.7464C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1000C= MANE Select | NP_001091.1:p.Pro334= |
| ENST00000366684.7:c.1000C= MANE Select | ENSP00000355645.3:p.Pro334= |
| NM_001100.3:c.1000C= , LRG_429t1:c.1000C= | NP_001091.1:p.Pro334= |
| ENST00000366683.3:c.631C= | ENSP00000355644.3:p.Pro211= |
| ENST00000366683.4:c.991-69C= | ENSP00000355644.4:n.991-69C= |
| ENST00000684723.1:c.865C= | ENSP00000508084.1:p.Pro289= |