Linked Data
ClinVar Variation Id:
776888
ClinVar RCV Id:
RCV000957275
dbSNP Id:
rs16963486
ExAC:
15:50534789 A / G
gnomAD v2:
15-50534789-A-G
gnomAD v3:
15-50242592-A-G
gnomAD v4:
15-50242592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242592A>G , CM000677.2:g.50242592A>G | GRCh38 |
| NC_000015.9:g.50534789A>G , CM000677.1:g.50534789A>G | GRCh37 |
| NC_000015.8:g.48322081A>G | NCBI36 |
| NG_027487.1:g.28374T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267845.8:c.1657T>C MANE Select | ENSP00000267845.3:p.Phe553Leu | |
| ENST00000267845.7:c.1657T>C | ENSP00000267845.3:p.Phe553Leu | |
| ENST00000543581.5:c.1558T>C | ENSP00000440252.1:p.Phe520Leu | |
| ENST00000559816.1:n.1401T>C | ||
| NM_001306146.1:c.1558T>C | NP_001293075.1:p.Phe520Leu | |
| NM_002112.3:c.1657T>C | NP_002103.2:p.Phe553Leu | |
| XM_011521479.1:c.1420T>C | XP_011519781.1:p.Phe474Leu | |
| XM_011521480.1:c.1225T>C | XP_011519782.1:p.Phe409Leu | |
| XM_017022094.1:c.1762T>C | XP_016877583.1:p.Phe588Leu | |
| XM_017022095.1:c.1663T>C | XP_016877584.1:p.Phe555Leu | |
| XM_017022096.1:c.1534T>C | XP_016877585.1:p.Phe512Leu | |
| XM_017022097.1:c.1525T>C | XP_016877586.1:p.Phe509Leu | |
| XM_017022098.1:c.1330T>C | XP_016877587.1:p.Phe444Leu | |
| NM_002112.4:c.1657T>C MANE Select | NP_002103.2:p.Phe553Leu | |
| NM_001306146.2:c.1558T>C | NP_001293075.1:p.Phe520Leu |