Linked Data
ClinVar Variation Id:
3225
dbSNP Id:
rs190285831
ExAC:
14:77755120 C / G
gnomAD v2:
14-77755120-C-G
gnomAD v3:
14-77288777-C-G
gnomAD v4:
14-77288777-C-G
PubMed:
PMID:17878207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77288777C>G , CM000676.2:g.77288777C>G | GRCh38 |
| NC_000014.8:g.77755120C>G , CM000676.1:g.77755120C>G | GRCh37 |
| NC_000014.7:g.76824873C>G | NCBI36 |
| NG_008897.1:g.37106G>C , LRG_844:g.37106G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.779G>C | ENSP00000451967.2:p.Arg260Pro | |
| ENST00000682247.1:c.1238G>C | ENSP00000507213.1:p.Arg413Pro | |
| ENST00000682382.1:c.810G>C | ||
| ENST00000682395.1:n.967G>C | ||
| ENST00000682459.1:n.902G>C | ||
| ENST00000682467.1:c.1238G>C | ENSP00000508062.1:p.Arg413Pro | |
| ENST00000682795.1:c.1238G>C | ENSP00000507574.1:p.Arg413Pro | |
| ENST00000682895.1:n.954G>C | ||
| ENST00000682955.1:n.526G>C | ||
| ENST00000683188.1:c.764G>C | ||
| ENST00000683328.1:c.231G>C | ENSP00000508096.1:n.231G>C | |
| ENST00000683380.1:n.902G>C | ||
| ENST00000683828.1:c.947G>C | ||
| ENST00000684259.1:n.1089G>C | ||
| ENST00000684549.1:n.789G>C | ||
| ENST00000261534.9:c.1238G>C MANE Select | ENSP00000261534.4:p.Arg413Pro | |
| ENST00000261534.8:c.1238G>C | ENSP00000261534.4:p.Arg413Pro | |
| ENST00000452340.7:n.1261G>C | ||
| ENST00000553880.5:n.109G>C | ||
| ENST00000554767.5:n.2024G>C | ||
| ENST00000556851.1:n.235G>C | ||
| ENST00000557675.5:n.328G>C | ||
| NM_013382.5:c.1238G>C , LRG_844t1:c.1238G>C | NP_037514.2:p.Arg413Pro | |
| XM_011536675.1:c.1238G>C | XP_011534977.1:p.Arg413Pro | |
| XM_011536676.1:c.905G>C | XP_011534978.1:p.Arg302Pro | |
| XM_011536677.1:c.779G>C | XP_011534979.1:p.Arg260Pro | |
| XM_011536678.1:c.1238G>C | XP_011534980.1:p.Arg413Pro | |
| XM_011536679.1:c.332G>C | XP_011534981.1:p.Arg111Pro | |
| XM_011536680.1:c.1238G>C | XP_011534982.1:p.Arg413Pro | |
| XR_943416.1:n.1441G>C | ||
| XM_011536675.2:c.1238G>C | XP_011534977.1:p.Arg413Pro | |
| XM_011536676.2:c.905G>C | XP_011534978.1:p.Arg302Pro | |
| XM_011536677.3:c.779G>C | XP_011534979.1:p.Arg260Pro | |
| XR_001750279.1:n.1438G>C | ||
| XR_001750282.1:n.1442G>C | ||
| XR_943416.3:n.1439G>C | ||
| NM_013382.6:c.1238G>C | NP_037514.2:p.Arg413Pro | |
| NM_013382.7:c.1238G>C MANE Select | NP_037514.2:p.Arg413Pro |