Linked Data
gnomAD v4:
4-4860147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860147C>T , CM000666.2:g.4860147C>T | GRCh38 |
| NC_000004.11:g.4861874C>T , CM000666.1:g.4861874C>T | GRCh37 |
| NC_000004.10:g.4912775C>T | NCBI36 |
| NG_008121.1:g.5483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.248C>T MANE Select | ENSP00000372170.4:p.Ser83Phe | |
| ENST00000382723.4:c.248C>T | ENSP00000372170.4:p.Ser83Phe | |
| NM_002448.3:c.248C>T MANE Select | NP_002439.2:p.Ser83Phe |