Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589294G>A , CM000678.2:g.3589294G>A | GRCh38 |
| NC_000016.9:g.3639295G>A , CM000678.1:g.3639295G>A | GRCh37 |
| NC_000016.8:g.3579296G>A | NCBI36 |
| NG_028123.1:g.27291C>T , LRG_503:g.27291C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032444.4:c.4344C>T MANE Select | NP_115820.2:p.Pro1448= |
| ENST00000294008.4:c.4344C>T MANE Select | ENSP00000294008.3:p.Pro1448= |
| NM_032444.2:c.4344C>T , LRG_503t1:c.4344C>T | NP_115820.2:p.Pro1448= |
| NM_032444.3:c.4344C>T | NP_115820.2:p.Pro1448= |
| ENST00000294008.3:c.4344C>T | ENSP00000294008.3:p.Pro1448= |
| XM_011522715.1:c.4344C>T | XP_011521017.1:p.Pro1448= |
| XM_011522715.3:c.4344C>T | XP_011521017.1:p.Pro1448= |
| XM_017023775.2:c.3522C>T | XP_016879264.1:p.Pro1174= |
| XM_024450471.1:c.4344C>T | XP_024306239.1:p.Pro1448= |