Linked Data
ClinVar Variation Id:
210816
dbSNP Id:
rs755871797
ExAC:
2:242707231 C / T
gnomAD v2:
2-242707231-C-T
gnomAD v3:
2-241767816-C-T
gnomAD v4:
2-241767816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767816C>T , CM000664.2:g.241767816C>T | GRCh38 |
| NC_000002.11:g.242707231C>T , CM000664.1:g.242707231C>T | GRCh37 |
| NC_000002.10:g.242355904C>T | NCBI36 |
| NG_012012.1:g.38202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1413C>T MANE Select | ENSP00000315351.4:p.Ser471= | |
| ENST00000321264.8:c.1413C>T | ENSP00000315351.4:p.Ser471= | |
| ENST00000400769.6:c.*163C>T | ENSP00000383580.2:n.*163C>T | |
| ENST00000403782.5:c.1011C>T | ENSP00000384723.1:p.Ser337= | |
| ENST00000436747.5:c.*2649C>T | ENSP00000400212.1:n.*2649C>T | |
| ENST00000445308.1:c.809C>T | ||
| ENST00000468064.5:n.1303C>T | ||
| ENST00000470343.5:n.894C>T | ||
| ENST00000473126.1:n.612C>T | ||
| ENST00000486953.5:n.1237C>T | ||
| ENST00000610344.1:c.*257C>T | ENSP00000481906.1:n.*257C>T | |
| NM_001287249.1:c.1011C>T | NP_001274178.1:p.Ser337= | |
| NM_152783.4:c.1413C>T | NP_689996.4:p.Ser471= | |
| NR_109778.1:n.1335C>T | ||
| XM_011511734.1:c.1533C>T | XP_011510036.1:p.Ser511= | |
| XM_011511735.1:c.1491C>T | XP_011510037.1:p.Ser497= | |
| XM_011511736.1:c.1455C>T | XP_011510038.1:p.Ser485= | |
| XM_011511750.1:c.*80C>T | XP_011510052.1:n.*80C>T | |
| XM_011511754.1:c.972C>T | XP_011510056.1:p.Ser324= | |
| XM_011511755.1:c.963C>T | XP_011510057.1:p.Ser321= | |
| XM_011511756.1:c.960C>T | XP_011510058.1:p.Ser320= | |
| XR_923004.1:n.2045C>T | ||
| XR_923007.1:n.1755C>T | ||
| XR_923011.1:n.1856C>T | ||
| NM_001352824.1:c.852C>T | NP_001339753.1:p.Ser284= | |
| XM_011511734.2:c.1533C>T | XP_011510036.1:p.Ser511= | |
| XM_011511735.2:c.1491C>T | XP_011510037.1:p.Ser497= | |
| XM_011511736.2:c.1455C>T | XP_011510038.1:p.Ser485= | |
| XM_011511750.3:c.*80C>T | XP_011510052.1:n.*80C>T | |
| XM_011511756.2:c.960C>T | XP_011510058.1:p.Ser320= | |
| XM_024453102.1:c.1305C>T | XP_024308870.1:p.Ser435= | |
| XR_001738918.2:n.1787C>T | ||
| XR_001738919.2:n.1721C>T | ||
| XR_923004.3:n.2044C>T | ||
| XR_923007.3:n.1754C>T | ||
| XR_923011.3:n.1855C>T | ||
| NM_152783.5:c.1413C>T MANE Select | NP_689996.4:p.Ser471= | |
| NM_001287249.2:c.1011C>T | NP_001274178.1:p.Ser337= | |
| NM_001352824.2:c.852C>T | NP_001339753.1:p.Ser284= | |
| NR_109778.2:n.1284C>T |