Linked Data
dbSNP Id:
rs752508536
ExAC:
2:20205523 A / C
gnomAD v2:
2-20205523-A-C
gnomAD v3:
2-20005762-A-C
gnomAD v4:
2-20005762-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005762A>C , CM000664.2:g.20005762A>C | GRCh38 |
| NC_000002.11:g.20205523A>C , CM000664.1:g.20205523A>C | GRCh37 |
| NC_000002.10:g.20069004A>C | NCBI36 |
| NG_008087.1:g.11933T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.772T>G MANE Select | ENSP00000383894.3:p.Phe258Val | |
| ENST00000407540.7:c.772T>G | ENSP00000383894.3:p.Phe258Val | |
| ENST00000421259.2:c.772T>G | ENSP00000398753.2:p.Phe258Val | |
| NM_002381.4:c.772T>G | NP_002372.1:p.Phe258Val | |
| NM_002381.5:c.772T>G MANE Select | NP_002372.1:p.Phe258Val |