Linked Data
dbSNP Id:
rs779660056
ExAC:
11:121393338 A / C
gnomAD v2:
11-121393338-A-C
gnomAD v3:
11-121522629-A-C
gnomAD v4:
11-121522629-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121522629A>C , CM000673.2:g.121522629A>C | GRCh38 |
| NC_000011.9:g.121393338A>C , CM000673.1:g.121393338A>C | GRCh37 |
| NC_000011.8:g.120898548A>C | NCBI36 |
| NG_023313.1:g.75378A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.1448A>C MANE Select | ENSP00000260197.6:p.Gln483Pro | |
| ENST00000260197.11:c.1448A>C | ENSP00000260197.6:p.Gln483Pro | |
| ENST00000532451.1:n.1400A>C | ||
| NM_003105.5:c.1448A>C | NP_003096.1:p.Gln483Pro | |
| XM_011542963.1:c.1448A>C | XP_011541265.1:p.Gln483Pro | |
| XM_011542964.1:c.1448A>C | XP_011541266.1:p.Gln483Pro | |
| XM_011542965.1:c.-175A>C | XP_011541267.1:n.-175A>C | |
| XM_011542963.3:c.1448A>C | XP_011541265.1:p.Gln483Pro | |
| XM_011542965.3:c.-175A>C | XP_011541267.1:n.-175A>C | |
| XM_017018169.2:c.1136A>C | XP_016873658.1:p.Gln379Pro | |
| XM_017018170.2:c.923A>C | XP_016873659.1:p.Gln308Pro | |
| XM_017018171.1:c.1448A>C | XP_016873660.1:p.Gln483Pro | |
| NM_003105.6:c.1448A>C MANE Select | NP_003096.2:p.Gln483Pro |