Linked Data
gnomAD v4:
2-189003052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003052C>T , CM000664.2:g.189003052C>T | GRCh38 |
| NC_000002.11:g.189867778C>T , CM000664.1:g.189867778C>T | GRCh37 |
| NC_000002.10:g.189576023C>T | NCBI36 |
| NG_007404.1:g.33680C>T , LRG_3:g.33680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2444C>T | ENSP00000415346.2:p.Ser815Phe | |
| ENST00000304636.9:c.2543C>T MANE Select | ENSP00000304408.4:p.Ser848Phe | |
| ENST00000304636.7:c.2543C>T | ENSP00000304408.3:p.Ser848Phe | |
| ENST00000317840.9:c.2527+16C>T | ENSP00000315243.6:n.2527+16C>T | |
| NM_000090.3:c.2543C>T , LRG_3t1:c.2543C>T | NP_000081.1:p.Ser848Phe | |
| NM_000090.4:c.2543C>T MANE Select | NP_000081.2:p.Ser848Phe |