Linked Data
dbSNP Id:
rs749002771
ExAC:
5:148207262 T / G
gnomAD v2:
5-148207262-T-G
gnomAD v3:
5-148827699-T-G
gnomAD v4:
5-148827699-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827699T>G , CM000667.2:g.148827699T>G | GRCh38 |
| NC_000005.9:g.148207262T>G , CM000667.1:g.148207262T>G | GRCh37 |
| NC_000005.8:g.148187455T>G | NCBI36 |
| NG_016421.1:g.6107T>G | |
| NG_016421.2:g.6107T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.868T>G MANE Select | ENSP00000305372.4:p.Phe290Val | |
| ENST00000305988.5:c.868T>G | ENSP00000305372.4:p.Phe290Val | |
| NM_000024.5:c.868T>G | NP_000015.1:p.Phe290Val | |
| NM_000024.6:c.868T>G MANE Select | NP_000015.2:p.Phe290Val |