Linked Data
ClinVar Variation Id:
304923
dbSNP Id:
rs549041558
ExAC:
11:47256870 C / T
gnomAD v2:
11-47256870-C-T
gnomAD v3:
11-47235319-C-T
gnomAD v4:
11-47235319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47235319C>T , CM000673.2:g.47235319C>T | GRCh38 |
| NC_000011.9:g.47256870C>T , CM000673.1:g.47256870C>T | GRCh37 |
| NC_000011.8:g.47213446C>T | NCBI36 |
| NG_009365.1:g.25378C>T , LRG_467:g.25378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.930C>T MANE Select | ENSP00000256996.4:p.Ser310= | |
| ENST00000256996.8:c.930C>T | ENSP00000256996.3:p.Ser310= | |
| ENST00000378600.7:c.457-2518C>T | ENSP00000367863.3:n.457-2518C>T | |
| ENST00000378601.7:c.*17C>T | ENSP00000367864.3:n.*17C>T | |
| ENST00000378603.7:c.738C>T | ENSP00000367866.3:p.Ser246= | |
| ENST00000612309.4:n.2379C>T | ||
| ENST00000614394.1:n.320C>T | ||
| ENST00000616278.4:c.606C>T | ENSP00000478411.1:n.606C>T | |
| ENST00000617022.4:n.1554-2518C>T | ||
| ENST00000617847.4:c.859C>T | ||
| ENST00000620515.1:n.96C>T | ||
| NM_000107.2:c.930C>T , LRG_467t1:c.930C>T | NP_000098.1:p.Ser310= | |
| NM_001300734.1:c.457-2518C>T | NP_001287663.1:n.457-2518C>T | |
| XR_242780.3:n.920C>T | ||
| XR_242780.4:n.920C>T | ||
| NM_000107.3:c.930C>T MANE Select | NP_000098.1:p.Ser310= | |
| NM_001300734.2:c.457-2518C>T | NP_001287663.1:n.457-2518C>T | |
| NM_001399874.1:c.930C>T | NP_001386803.1:p.Ser310= | |
| NM_001399875.1:c.930C>T | NP_001386804.1:p.Ser310= | |
| NM_001399876.1:c.457-2518C>T | NP_001386805.1:n.457-2518C>T | |
| NM_001399878.1:c.738C>T | NP_001386807.1:p.Ser246= | |
| NR_174610.1:n.1181C>T | ||
| NR_174611.1:n.1159C>T |