Linked Data
ClinVar Variation Id:
204301
dbSNP Id:
rs756880678
ExAC:
9:130263288 G / A
gnomAD v2:
9-130263288-G-A
gnomAD v3:
9-127501009-G-A
gnomAD v4:
9-127501009-G-A
PubMed:
PMID:20301462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501009G>A , CM000671.2:g.127501009G>A | GRCh38 |
| NC_000009.11:g.130263288G>A , CM000671.1:g.130263288G>A | GRCh37 |
| NC_000009.10:g.129303109G>A | NCBI36 |
| NG_032008.1:g.54524G>A , LRG_373:g.54524G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1913-1G>A MANE Select | ENSP00000300417.6:n.1913-1G>A | |
| ENST00000472068.2:c.*1637-1G>A | ENSP00000501555.1:n.*1637-1G>A | |
| ENST00000483302.6:n.2578-1G>A | ||
| ENST00000498513.6:c.*804-1G>A | ENSP00000501637.1:n.*804-1G>A | |
| ENST00000674511.1:n.1512-1G>A | ||
| ENST00000674516.1:c.*529-1G>A | ENSP00000502441.1:n.*529-1G>A | |
| ENST00000674621.1:n.1861-2364G>A | ||
| ENST00000674771.1:c.*556-1G>A | ENSP00000502627.1:n.*556-1G>A | |
| ENST00000674784.1:c.*973-1G>A | ENSP00000501837.1:n.*973-1G>A | |
| ENST00000674970.1:c.*1687-1G>A | ENSP00000502493.1:n.*1687-1G>A | |
| ENST00000675012.1:n.1857-1G>A | ||
| ENST00000675141.1:c.1814-1G>A | ENSP00000502420.1:n.1814-1G>A | |
| ENST00000675198.1:n.1793-1G>A | ||
| ENST00000675213.1:c.1868-1G>A | ENSP00000502218.1:n.1868-1G>A | |
| ENST00000675224.1:c.1941-1G>A | ENSP00000501869.1:n.1941-1G>A | |
| ENST00000675253.1:c.*585-1G>A | ENSP00000502557.1:n.*585-1G>A | |
| ENST00000675445.1:c.*1585-1G>A | ENSP00000502253.1:n.*1585-1G>A | |
| ENST00000675448.1:c.1913-1G>A | ENSP00000502167.1:n.1913-1G>A | |
| ENST00000675521.1:n.1823-1G>A | ||
| ENST00000675572.1:c.1814-1G>A | ENSP00000501598.1:n.1814-1G>A | |
| ENST00000675641.1:c.*655-1G>A | ENSP00000501845.1:n.*655-1G>A | |
| ENST00000675657.1:c.*526-1G>A | ENSP00000502002.1:n.*526-1G>A | |
| ENST00000675662.1:n.1708-1G>A | ||
| ENST00000675789.1:c.1733-1G>A | ENSP00000501954.1:n.1733-1G>A | |
| ENST00000675883.1:c.1832-1G>A | ENSP00000501592.1:n.1832-1G>A | |
| ENST00000675945.1:c.*554-1G>A | ENSP00000501835.1:n.*554-1G>A | |
| ENST00000676014.1:c.1856-1G>A | ENSP00000502058.1:n.1856-1G>A | |
| ENST00000676035.1:n.1575-1G>A | ||
| ENST00000676106.1:n.1950-1G>A | ||
| ENST00000676137.1:n.1943-1G>A | ||
| ENST00000676170.1:c.1994-1G>A | ENSP00000502177.1:n.1994-1G>A | |
| ENST00000676318.1:c.*2743-1G>A | ENSP00000502300.1:n.*2743-1G>A | |
| ENST00000676336.1:c.*526-1G>A | ENSP00000502686.1:n.*526-1G>A | |
| ENST00000676349.1:c.*1601-1G>A | ENSP00000502155.1:n.*1601-1G>A | |
| ENST00000676399.1:n.1816-1G>A | ||
| ENST00000676409.1:n.1973-1G>A | ||
| ENST00000300417.10:c.1913-1G>A | ENSP00000300417.6:n.1913-1G>A | |
| ENST00000323301.8:c.1913-1G>A | ENSP00000322937.4:n.1913-1G>A | |
| ENST00000373322.1:c.1913-1G>A | ENSP00000362419.1:n.1913-1G>A | |
| ENST00000373324.8:c.1832-1G>A | ENSP00000362421.4:n.1832-1G>A | |
| ENST00000472068.1:n.806-1G>A | ||
| ENST00000483302.5:n.1135-1G>A | ||
| NM_001005373.3:c.1913-1G>A | NP_001005373.1:n.1913-1G>A | |
| NM_001005374.3:c.1913-1G>A | NP_001005374.1:n.1913-1G>A | |
| NM_001190723.2:c.1832-1G>A | NP_001177652.1:n.1832-1G>A | |
| NM_138361.5:c.1913-1G>A , LRG_373t1:c.1913-1G>A | NP_612370.3:n.1913-1G>A | |
| XM_006717316.2:c.1814-1G>A | XP_006717379.1:n.1814-1G>A | |
| XM_006717316.4:c.1814-1G>A | XP_006717379.1:n.1814-1G>A | |
| XM_017015283.1:c.1913-1G>A | XP_016870772.1:n.1913-1G>A | |
| XM_017015284.2:c.1124-1G>A | XP_016870773.1:n.1124-1G>A | |
| XR_001746415.2:n.2448-1G>A | ||
| XR_929874.3:n.2272-1G>A | ||
| NM_001190723.3:c.1832-1G>A | NP_001177652.1:n.1832-1G>A | |
| NM_001005373.4:c.1913-1G>A MANE Select | NP_001005373.1:n.1913-1G>A | |
| NM_001005374.4:c.1913-1G>A | NP_001005374.1:n.1913-1G>A | |
| NM_001384142.1:c.1913-1G>A | NP_001371071.1:n.1913-1G>A | |
| NM_001384143.1:c.1814-1G>A | NP_001371072.1:n.1814-1G>A | |
| NM_001384144.1:c.1124-1G>A | NP_001371073.1:n.1124-1G>A | |
| NR_168891.1:n.2442-1G>A | ||
| NR_168892.1:n.2266-1G>A |