Linked Data
ClinVar Variation Id:
142301
dbSNP Id:
rs145466894
ExAC:
17:41223196 G / C
gnomAD v2:
17-41223196-G-C
gnomAD v3:
17-43071179-G-C
gnomAD v4:
17-43071179-G-C
PubMed:
PMID:26689913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071179G>C , CM000679.2:g.43071179G>C | GRCh38 |
| NC_000017.10:g.41223196G>C , CM000679.1:g.41223196G>C | GRCh37 |
| NC_000017.9:g.38476722G>C | NCBI36 |
| NG_005905.2:g.146805C>G , LRG_292:g.146805C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4732C>G | ENSP00000417241.2:p.Pro1578Ala | |
| ENST00000470026.6:c.4735C>G | ENSP00000419274.2:p.Pro1579Ala | |
| ENST00000473961.6:c.4609C>G | ENSP00000420201.2:p.Pro1537Ala | |
| ENST00000476777.6:c.4729C>G | ENSP00000417554.2:p.Pro1577Ala | |
| ENST00000477152.6:c.4657C>G | ENSP00000419988.2:p.Pro1553Ala | |
| ENST00000478531.6:c.1423C>G | ENSP00000420412.2:p.Pro475Ala | |
| ENST00000489037.2:c.4657C>G | ENSP00000420781.2:p.Pro1553Ala | |
| ENST00000493919.6:c.1285C>G | ENSP00000418819.2:p.Pro429Ala | |
| ENST00000494123.6:c.4735C>G | ENSP00000419103.2:p.Pro1579Ala | |
| ENST00000497488.2:c.3847C>G | ENSP00000418986.2:p.Pro1283Ala | |
| ENST00000618469.2:c.4735C>G | ENSP00000478114.2:p.Pro1579Ala | |
| ENST00000634433.2:c.4612C>G | ENSP00000489431.2:p.Pro1538Ala | |
| ENST00000644379.2:c.4801C>G | ENSP00000496570.2:p.Pro1601Ala | |
| ENST00000644555.2:c.1285C>G | ENSP00000494614.2:p.Pro429Ala | |
| ENST00000652672.2:c.4594C>G | ENSP00000498906.2:p.Pro1532Ala | |
| ENST00000484087.6:c.1297C>G | ENSP00000419481.2:p.Pro433Ala | |
| ENST00000700182.1:c.1342C>G | ENSP00000514849.1:p.Pro448Ala | |
| ENST00000357654.9:c.4735C>G MANE Select | ENSP00000350283.3:p.Pro1579Ala | |
| ENST00000471181.7:c.4798C>G | ENSP00000418960.2:p.Pro1600Ala | |
| ENST00000644379.1:c.1122C>G | ||
| ENST00000352993.7:c.1309C>G | ENSP00000312236.5:p.Pro437Ala | |
| ENST00000357654.7:c.4735C>G | ENSP00000350283.3:p.Pro1579Ala | |
| ENST00000461221.5:c.*4518C>G | ENSP00000418548.1:n.*4518C>G | |
| ENST00000468300.5:c.1423C>G | ENSP00000417148.1:p.Pro475Ala | |
| ENST00000471181.6:c.4798C>G | ENSP00000418960.2:p.Pro1600Ala | |
| ENST00000478531.5:c.1423C>G | ENSP00000420412.1:p.Pro475Ala | |
| ENST00000484087.5:c.1048C>G | ENSP00000419481.1:p.Pro350Ala | |
| ENST00000491747.6:c.1423C>G | ENSP00000420705.2:p.Pro475Ala | |
| ENST00000493795.5:c.4594C>G | ENSP00000418775.1:p.Pro1532Ala | |
| ENST00000493919.5:c.1285C>G | ENSP00000418819.1:p.Pro429Ala | |
| ENST00000586385.5:c.5-7228C>G | ENSP00000465818.1:n.5-7228C>G | |
| ENST00000591534.5:c.208C>G | ENSP00000467329.1:p.Pro70Ala | |
| ENST00000591849.5:c.-98-20989C>G | ENSP00000465347.1:n.-98-20989C>G | |
| NM_007294.3:c.4735C>G , LRG_292t1:c.4735C>G | NP_009225.1:p.Pro1579Ala | |
| NM_007297.3:c.4594C>G | NP_009228.2:p.Pro1532Ala | |
| NM_007298.3:c.1423C>G | NP_009229.2:p.Pro475Ala | |
| NM_007299.3:c.1423C>G | NP_009230.2:p.Pro475Ala | |
| NM_007300.3:c.4798C>G | NP_009231.2:p.Pro1600Ala | |
| NR_027676.1:n.4871C>G | ||
| NM_007294.4:c.4735C>G MANE Select | NP_009225.1:p.Pro1579Ala | |
| NM_007297.4:c.4594C>G | NP_009228.2:p.Pro1532Ala | |
| NM_007299.4:c.1423C>G | NP_009230.2:p.Pro475Ala | |
| NM_007300.4:c.4798C>G | NP_009231.2:p.Pro1600Ala | |
| NR_027676.2:n.4912C>G |