Linked Data
ClinVar Variation Id:
1718
dbSNP Id:
rs121434326
ExAC:
5:60198273 C / G
gnomAD v2:
5-60198273-C-G
gnomAD v4:
5-60902446-C-G
PubMed:
PMID:14661080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60902446C>G , CM000667.2:g.60902446C>G | GRCh38 |
| NC_000005.9:g.60198273C>G , CM000667.1:g.60198273C>G | GRCh37 |
| NC_000005.8:g.60234030C>G | NCBI36 |
| NG_009289.1:g.47633G>C , LRG_466:g.47633G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.625G>C | ENSP00000408344.2:p.Ala209Pro | |
| ENST00000647431.2:c.714G>C | ENSP00000494726.2:n.714G>C | |
| ENST00000647486.2:c.694G>C | ENSP00000494466.2:n.694G>C | |
| ENST00000675042.2:c.439G>C | ENSP00000502082.2:p.Ala147Pro | |
| ENST00000675452.2:c.*578G>C | ENSP00000506954.1:n.*578G>C | |
| ENST00000682217.1:c.613G>C | ENSP00000507570.1:p.Ala205Pro | |
| ENST00000682246.1:n.669G>C | ||
| ENST00000682375.1:c.*443G>C | ENSP00000507551.1:n.*443G>C | |
| ENST00000683052.1:c.415G>C | ENSP00000507072.1:p.Ala139Pro | |
| ENST00000683199.1:n.635G>C | ||
| ENST00000683216.1:n.882G>C | ||
| ENST00000683460.1:c.*443G>C | ENSP00000507820.1:n.*443G>C | |
| ENST00000684394.1:n.668G>C | ||
| ENST00000684453.1:n.663G>C | ||
| ENST00000684621.1:n.669G>C | ||
| ENST00000265038.10:c.613G>C | ENSP00000265038.6:p.Ala205Pro | |
| ENST00000643034.1:c.*505G>C | ENSP00000496080.1:n.*505G>C | |
| ENST00000643708.1:c.*443G>C | ENSP00000494199.1:n.*443G>C | |
| ENST00000647431.1:c.665G>C | ||
| ENST00000647486.1:c.645G>C | ||
| ENST00000675378.1:c.613G>C | ENSP00000502535.1:p.Ala205Pro | |
| ENST00000675452.1:n.862G>C | ||
| ENST00000676185.1:c.613G>C MANE Select | ENSP00000501614.1:p.Ala205Pro | |
| ENST00000265038.9:c.613G>C | ENSP00000265038.5:p.Ala205Pro | |
| ENST00000381118.7:c.*657G>C | ENSP00000370510.3:n.*657G>C | |
| ENST00000462279.5:n.458G>C | ||
| ENST00000484330.5:n.289G>C | ||
| ENST00000495985.5:n.390G>C | ||
| NM_000082.3:c.613G>C , LRG_466t1:c.613G>C | NP_000073.1:p.Ala205Pro | |
| NM_001007233.2:c.439G>C | NP_001007234.1:p.Ala147Pro | |
| NM_001290285.1:c.154G>C | NP_001277214.1:p.Ala52Pro | |
| NM_000082.4:c.613G>C MANE Select | NP_000073.1:p.Ala205Pro | |
| NM_001007233.3:c.439G>C | NP_001007234.1:p.Ala147Pro | |
| NM_001290285.2:c.154G>C | NP_001277214.1:p.Ala52Pro |