Linked Data
dbSNP Id:
rs370890377
ExAC:
3:119526292 C / G
gnomAD v2:
3-119526292-C-G
gnomAD v3:
3-119807445-C-G
gnomAD v4:
3-119807445-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807445C>G , CM000665.2:g.119807445C>G | GRCh38 |
| NC_000003.11:g.119526292C>G , CM000665.1:g.119526292C>G | GRCh37 |
| NC_000003.10:g.121008982C>G | NCBI36 |
| NG_011856.1:g.31962C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.195C>G MANE Select | ENSP00000377319.3:p.Phe65Leu | |
| ENST00000466380.6:c.195C>G | ENSP00000420297.2:p.Phe65Leu | |
| ENST00000648112.1:c.*218C>G | ENSP00000497876.1:n.*218C>G | |
| ENST00000337940.4:c.312C>G | ENSP00000336528.4:p.Phe104Leu | |
| ENST00000393716.6:c.195C>G | ENSP00000377319.2:p.Phe65Leu | |
| ENST00000466380.5:c.195C>G | ENSP00000420297.1:p.Phe65Leu | |
| ENST00000474090.1:n.483C>G | ||
| NM_003889.3:c.195C>G | NP_003880.3:p.Phe65Leu | |
| NM_022002.2:c.312C>G | NP_071285.1:p.Phe104Leu | |
| NM_033013.2:c.195C>G | NP_148934.1:p.Phe65Leu | |
| NM_003889.4:c.195C>G MANE Select | NP_003880.3:p.Phe65Leu | |
| NM_022002.3:c.312C>G | NP_071285.1:p.Phe104Leu | |
| NM_033013.3:c.195C>G | NP_148934.1:p.Phe65Leu |