Linked Data
ClinVar Variation Id:
2994
ClinVar RCV Id:
RCV000003128
RCV000003129
RCV000169297
RCV000812595
RCV000781865
RCV001248931
RCV002512693
RCV003333947
dbSNP Id:
rs120074128
ExAC:
11:6413175 C / A
gnomAD v2:
11-6413175-C-A
gnomAD v3:
11-6391945-C-A
gnomAD v4:
11-6391945-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391945C>A , CM000673.2:g.6391945C>A | GRCh38 |
| NC_000011.9:g.6413175C>A , CM000673.1:g.6413175C>A | GRCh37 |
| NC_000011.8:g.6369751C>A | NCBI36 |
| NG_011780.1:g.6521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.880C>A MANE Select | ENSP00000340409.4:p.Gln294Lys | |
| ENST00000342245.8:c.880C>A | ENSP00000340409.4:p.Gln294Lys | |
| ENST00000526280.1:c.69C>A | ||
| ENST00000527275.5:c.877C>A | ENSP00000435350.1:p.Gln293Lys | |
| ENST00000530395.1:c.61C>A | ENSP00000431479.1:p.Gln21Lys | |
| ENST00000531303.5:c.438+442C>A | ENSP00000432625.1:n.438+442C>A | |
| ENST00000533123.5:c.880C>A | ENSP00000435950.1:p.Gln294Lys | |
| ENST00000533196.1:n.375-61C>A | ||
| ENST00000534405.5:c.880C>A | ENSP00000434353.1:p.Gln294Lys | |
| NM_000543.4:c.880C>A | NP_000534.3:p.Gln294Lys | |
| NM_001007593.2:c.877C>A | NP_001007594.2:p.Gln293Lys | |
| XM_005253075.3:c.880C>A | XP_005253132.1:p.Gln294Lys | |
| XM_011520303.1:c.880C>A | XP_011518605.1:p.Gln294Lys | |
| XM_011520304.1:c.880C>A | XP_011518606.1:p.Gln294Lys | |
| XR_930886.1:n.1178C>A | ||
| NM_001318087.1:c.880C>A | NP_001305016.1:p.Gln294Lys | |
| NM_001318088.1:c.-82C>A | NP_001305017.1:n.-82C>A | |
| NM_001365135.1:c.880C>A | NP_001352064.1:p.Gln294Lys | |
| NR_027400.2:n.1065C>A | ||
| NR_134502.1:n.623+442C>A | ||
| XM_011520304.2:c.880C>A | XP_011518606.1:p.Gln294Lys | |
| XR_001747940.2:n.1005C>A | ||
| XR_002957158.1:n.1005C>A | ||
| NM_000543.5:c.880C>A MANE Select | NP_000534.3:p.Gln294Lys | |
| NM_001007593.3:c.877C>A | NP_001007594.2:p.Gln293Lys | |
| NM_001318087.2:c.880C>A | NP_001305016.1:p.Gln294Lys | |
| NM_001318088.2:c.-82C>A | NP_001305017.1:n.-82C>A | |
| NM_001365135.2:c.880C>A | NP_001352064.1:p.Gln294Lys | |
| NR_027400.3:n.1005C>A | ||
| NR_134502.2:n.563+442C>A |