Linked Data
dbSNP Id:
rs201873040
ExAC:
8:37823306 A / G
gnomAD v2:
8-37823306-A-G
gnomAD v3:
8-37965788-A-G
gnomAD v4:
8-37965788-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965788A>G , CM000670.2:g.37965788A>G | GRCh38 |
| NC_000008.10:g.37823306A>G , CM000670.1:g.37823306A>G | GRCh37 |
| NC_000008.9:g.37942463A>G | NCBI36 |
| NG_011936.1:g.5879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.682T>C MANE Select | ENSP00000343782.3:p.Phe228Leu | |
| ENST00000520341.2:n.810T>C | ||
| ENST00000647937.1:c.166T>C | ENSP00000497740.1:p.Phe56Leu | |
| ENST00000345060.4:c.682T>C | ENSP00000343782.3:p.Phe228Leu | |
| ENST00000614635.1:c.682T>C | ENSP00000480325.1:p.Phe228Leu | |
| NM_000025.2:c.682T>C | NP_000016.1:p.Phe228Leu | |
| NM_000025.3:c.682T>C MANE Select | NP_000016.1:p.Phe228Leu |