Linked Data
ClinVar Variation Id:
719339
ClinVar RCV Id:
RCV000892458
dbSNP Id:
rs35391040
ExAC:
1:99161184 C / A
gnomAD v2:
1-99161184-C-A
gnomAD v3:
1-98695628-C-A
gnomAD v4:
1-98695628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.98695628C>A , CM000663.2:g.98695628C>A | GRCh38 |
| NC_000001.10:g.99161184C>A , CM000663.1:g.99161184C>A | GRCh37 |
| NC_000001.9:g.98933772C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306121.8:c.750C>A MANE Select | ENSP00000304429.3:p.Phe250Leu | |
| ENST00000306121.7:c.750C>A | ENSP00000304429.3:p.Phe250Leu | |
| ENST00000528824.1:c.*570C>A | ENSP00000435172.1:n.*570C>A | |
| ENST00000529992.5:c.585C>A | ENSP00000434731.1:p.Phe195Leu | |
| NM_015976.4:c.750C>A | NP_057060.2:p.Phe250Leu | |
| NM_152238.3:c.585C>A | NP_689424.2:p.Phe195Leu | |
| NR_033716.1:n.922C>A | ||
| XM_006710677.1:c.816C>A | XP_006710740.1:p.Phe272Leu | |
| XM_006710678.1:c.558C>A | XP_006710741.1:p.Phe186Leu | |
| XM_011541564.1:c.558C>A | XP_011539866.1:p.Phe186Leu | |
| NM_001364903.1:c.558C>A | NP_001351832.1:p.Phe186Leu | |
| XM_006710677.2:c.816C>A | XP_006710740.1:p.Phe272Leu | |
| XM_011541564.3:c.558C>A | XP_011539866.1:p.Phe186Leu | |
| XM_017001425.2:c.558C>A | XP_016856914.1:p.Phe186Leu | |
| XM_017001426.2:c.558C>A | XP_016856915.1:p.Phe186Leu | |
| XM_017001427.2:c.558C>A | XP_016856916.1:p.Phe186Leu | |
| XM_017001428.1:c.558C>A | XP_016856917.1:p.Phe186Leu | |
| NM_015976.5:c.750C>A MANE Select | NP_057060.2:p.Phe250Leu | |
| NM_152238.4:c.585C>A | NP_689424.2:p.Phe195Leu | |
| NR_033716.2:n.881C>A |