Linked Data
ClinVar Variation Id:
1477833
ClinVar RCV Id:
RCV001971787
dbSNP Id:
rs1892945237
gnomAD v3:
14-23431627-A-C
gnomAD v4:
14-23431627-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431627A>C , CM000676.2:g.23431627A>C | GRCh38 |
| NC_000014.8:g.23900836A>C , CM000676.1:g.23900836A>C | GRCh37 |
| NC_000014.7:g.22970676A>C | NCBI36 |
| NG_007884.1:g.9035T>G , LRG_384:g.9035T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.690T>G MANE Select | ENSP00000347507.3:p.Phe230Leu | |
| ENST00000355349.3:c.690T>G | ENSP00000347507.3:p.Phe230Leu | |
| NM_000257.3:c.690T>G | NP_000248.2:p.Phe230Leu | |
| XR_245686.3:n.796T>G | ||
| XM_017021340.1:c.690T>G | XP_016876829.1:p.Phe230Leu | |
| NM_000257.4:c.690T>G MANE Select | NP_000248.2:p.Phe230Leu |