Linked Data
dbSNP Id:
rs757312452
ExAC:
14:50088517 T / C
gnomAD v2:
14-50088517-T-C
gnomAD v4:
14-49621799-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621799T>C , CM000676.2:g.49621799T>C | GRCh38 |
| NC_000014.8:g.50088517T>C , CM000676.1:g.50088517T>C | GRCh37 |
| NC_000014.7:g.49158267T>C | NCBI36 |
| NG_008920.1:g.6029T>C | |
| NG_033054.1:g.3833A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.531T>C MANE Select | ENSP00000307423.2:p.Phe177= | |
| ENST00000305386.3:c.531T>C | ENSP00000307423.2:p.Phe177= | |
| NM_002408.3:c.531T>C | NP_002399.1:p.Phe177= | |
| NM_002408.4:c.531T>C MANE Select | NP_002399.1:p.Phe177= |