Linked Data
ClinVar Variation Id:
472790
ClinVar RCV Id:
RCV000551707
dbSNP Id:
rs747659617
ExAC:
9:130251722 G / A
gnomAD v2:
9-130251722-G-A
gnomAD v4:
9-127489443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127489443G>A , CM000671.2:g.127489443G>A | GRCh38 |
| NC_000009.11:g.130251722G>A , CM000671.1:g.130251722G>A | GRCh37 |
| NC_000009.10:g.129291543G>A | NCBI36 |
| NG_032008.1:g.42958G>A , LRG_373:g.42958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1348-1G>A MANE Select | ENSP00000300417.6:n.1348-1G>A | |
| ENST00000472068.2:c.*1076-1G>A | ENSP00000501555.1:n.*1076-1G>A | |
| ENST00000483302.6:n.145-1G>A | ||
| ENST00000498513.6:c.*239-1G>A | ENSP00000501637.1:n.*239-1G>A | |
| ENST00000674511.1:n.1223-1G>A | ||
| ENST00000674516.1:c.1348-1G>A | ENSP00000502441.1:n.1348-1G>A | |
| ENST00000674621.1:n.1398-1G>A | ||
| ENST00000674771.1:c.*90-1G>A | ENSP00000502627.1:n.*90-1G>A | |
| ENST00000674784.1:c.*507-1G>A | ENSP00000501837.1:n.*507-1G>A | |
| ENST00000674970.1:c.*1122-1G>A | ENSP00000502493.1:n.*1122-1G>A | |
| ENST00000675012.1:n.1291G>A | ||
| ENST00000675141.1:c.1348-1G>A | ENSP00000502420.1:n.1348-1G>A | |
| ENST00000675198.1:n.1309-1G>A | ||
| ENST00000675213.1:c.1303-1G>A | ENSP00000502218.1:n.1303-1G>A | |
| ENST00000675224.1:c.1348-1G>A | ENSP00000501869.1:n.1348-1G>A | |
| ENST00000675253.1:c.*200-1G>A | ENSP00000502557.1:n.*200-1G>A | |
| ENST00000675445.1:c.*1020-1G>A | ENSP00000502253.1:n.*1020-1G>A | |
| ENST00000675448.1:c.1348-1G>A | ENSP00000502167.1:n.1348-1G>A | |
| ENST00000675521.1:n.1339-1G>A | ||
| ENST00000675572.1:c.1348-1G>A | ENSP00000501598.1:n.1348-1G>A | |
| ENST00000675641.1:c.*90-1G>A | ENSP00000501845.1:n.*90-1G>A | |
| ENST00000675657.1:c.1260-1G>A | ENSP00000502002.1:n.1260-1G>A | |
| ENST00000675662.1:n.1143-1G>A | ||
| ENST00000675789.1:c.1348-1G>A | ENSP00000501954.1:n.1348-1G>A | |
| ENST00000675883.1:c.1348-1G>A | ENSP00000501592.1:n.1348-1G>A | |
| ENST00000675945.1:c.*169G>A | ENSP00000501835.1:n.*169G>A | |
| ENST00000676014.1:c.1291-1G>A | ENSP00000502058.1:n.1291-1G>A | |
| ENST00000676035.1:n.1109-1G>A | ||
| ENST00000676106.1:n.1153-1G>A | ||
| ENST00000676137.1:n.1378-1G>A | ||
| ENST00000676170.1:c.1429-1G>A | ENSP00000502177.1:n.1429-1G>A | |
| ENST00000676318.1:c.*90-1G>A | ENSP00000502300.1:n.*90-1G>A | |
| ENST00000676336.1:c.1185-1G>A | ENSP00000502686.1:n.1185-1G>A | |
| ENST00000676349.1:c.*1117-1G>A | ENSP00000502155.1:n.*1117-1G>A | |
| ENST00000676399.1:n.1251-1G>A | ||
| ENST00000676409.1:n.1408-1G>A | ||
| ENST00000300417.10:c.1348-1G>A | ENSP00000300417.6:n.1348-1G>A | |
| ENST00000323301.8:c.1348-1G>A | ENSP00000322937.4:n.1348-1G>A | |
| ENST00000373322.1:c.1348-1G>A | ENSP00000362419.1:n.1348-1G>A | |
| ENST00000373324.8:c.1348-1G>A | ENSP00000362421.4:n.1348-1G>A | |
| ENST00000472068.1:n.340-1G>A | ||
| ENST00000483302.5:n.570-1G>A | ||
| NM_001005373.3:c.1348-1G>A | NP_001005373.1:n.1348-1G>A | |
| NM_001005374.3:c.1348-1G>A | NP_001005374.1:n.1348-1G>A | |
| NM_001190723.2:c.1348-1G>A | NP_001177652.1:n.1348-1G>A | |
| NM_138361.5:c.1348-1G>A , LRG_373t1:c.1348-1G>A | NP_612370.3:n.1348-1G>A | |
| XM_006717316.2:c.1348-1G>A | XP_006717379.1:n.1348-1G>A | |
| XR_929874.1:n.1725-1G>A | ||
| XM_006717316.4:c.1348-1G>A | XP_006717379.1:n.1348-1G>A | |
| XM_017015283.1:c.1348-1G>A | XP_016870772.1:n.1348-1G>A | |
| XM_017015284.2:c.559-1G>A | XP_016870773.1:n.559-1G>A | |
| XR_001746415.2:n.1883-1G>A | ||
| XR_929874.3:n.1707-1G>A | ||
| NM_001190723.3:c.1348-1G>A | NP_001177652.1:n.1348-1G>A | |
| NM_001005373.4:c.1348-1G>A MANE Select | NP_001005373.1:n.1348-1G>A | |
| NM_001005374.4:c.1348-1G>A | NP_001005374.1:n.1348-1G>A | |
| NM_001384142.1:c.1348-1G>A | NP_001371071.1:n.1348-1G>A | |
| NM_001384143.1:c.1348-1G>A | NP_001371072.1:n.1348-1G>A | |
| NM_001384144.1:c.559-1G>A | NP_001371073.1:n.559-1G>A | |
| NR_168891.1:n.1877-1G>A | ||
| NR_168892.1:n.1701-1G>A |