Linked Data
ClinVar Variation Id:
229719
dbSNP Id:
rs372365287
gnomAD v2:
17-33430521-A-G
gnomAD v3:
17-35103502-A-G
gnomAD v4:
17-35103502-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35103502A>G , CM000679.2:g.35103502A>G | GRCh38 |
| NC_000017.10:g.33430521A>G , CM000679.1:g.33430521A>G | GRCh37 |
| NC_000017.9:g.30454634A>G | NCBI36 |
| NG_031858.1:g.21368T>C , LRG_516:g.21368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.484T>C | ENSP00000468273.3:p.Ser162Pro | |
| ENST00000587405.6:c.262T>C | ENSP00000466478.2:p.Ser88Pro | |
| ENST00000590016.6:c.679T>C | ENSP00000466399.1:p.Ser227Pro | |
| ENST00000592577.6:c.262T>C | ENSP00000466839.2:p.Ser88Pro | |
| ENST00000345365.11:c.619T>C MANE Select | ENSP00000338790.6:p.Ser207Pro | |
| ENST00000335858.11:c.283T>C | ENSP00000338408.6:p.Ser95Pro | |
| ENST00000345365.10:c.619T>C | ENSP00000338790.6:p.Ser207Pro | |
| ENST00000394589.8:c.619T>C | ENSP00000378090.4:p.Ser207Pro | |
| ENST00000460118.6:c.88T>C | ENSP00000464356.2:p.Ser30Pro | |
| ENST00000586044.5:c.*350T>C | ENSP00000465584.1:n.*350T>C | |
| ENST00000586210.5:c.*213T>C | ENSP00000465612.1:n.*213T>C | |
| ENST00000587405.5:c.262T>C | ENSP00000466478.1:p.Ser88Pro | |
| ENST00000587977.5:c.*359T>C | ENSP00000466587.1:n.*359T>C | |
| ENST00000588372.5:c.*102T>C | ENSP00000468764.1:n.*102T>C | |
| ENST00000588594.5:c.*215T>C | ENSP00000465366.1:n.*215T>C | |
| ENST00000590016.5:c.679T>C | ENSP00000466399.1:p.Ser227Pro | |
| ENST00000591723.5:c.88T>C | ENSP00000467986.1:p.Ser30Pro | |
| ENST00000592181.1:c.262T>C | ENSP00000464799.1:p.Ser88Pro | |
| ENST00000592577.5:c.625T>C | ENSP00000466839.1:p.Ser209Pro | |
| ENST00000593039.5:c.142T>C | ENSP00000466834.1:p.Ser48Pro | |
| NM_001142571.1:c.679T>C | NP_001136043.1:p.Ser227Pro | |
| NM_002878.3:c.619T>C , LRG_516t1:c.619T>C | NP_002869.3:p.Ser207Pro | |
| NM_133629.2:c.283T>C | NP_598332.1:p.Ser95Pro | |
| NR_037711.1:n.756T>C | ||
| NR_037712.1:n.621T>C | ||
| NR_037714.1:n.371T>C | ||
| NM_001142571.2:c.679T>C | NP_001136043.1:p.Ser227Pro | |
| NM_133629.3:c.283T>C | NP_598332.1:p.Ser95Pro | |
| NR_037711.2:n.645T>C | ||
| NR_037712.2:n.510T>C | ||
| NM_002878.4:c.619T>C MANE Select | NP_002869.3:p.Ser207Pro |