Linked Data
dbSNP Id:
rs1402008404
gnomAD v2:
18-28906570-C-T
gnomAD v3:
18-31326607-C-T
gnomAD v4:
18-31326607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31326607C>T , CM000680.2:g.31326607C>T | GRCh38 |
| NC_000018.9:g.28906570C>T , CM000680.1:g.28906570C>T | GRCh37 |
| NC_000018.8:g.27160568C>T | NCBI36 |
| NG_011803.2:g.13519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.75C>T MANE Select | ENSP00000257192.4:p.Phe25= | |
| ENST00000257192.4:c.75C>T | ENSP00000257192.4:p.Phe25= | |
| NM_001942.3:c.75C>T | NP_001933.2:p.Phe25= | |
| NM_001942.4:c.75C>T MANE Select | NP_001933.2:p.Phe25= |