Linked Data
ClinVar Variation Id:
424663
dbSNP Id:
rs138175138
ExAC:
1:110169006 G / C
gnomAD v2:
1-110169006-G-C
gnomAD v3:
1-109626384-G-C
gnomAD v4:
1-109626384-G-C
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109626384G>C , CM000663.2:g.109626384G>C | GRCh38 |
| NC_000001.10:g.110169006G>C , CM000663.1:g.110169006G>C | GRCh37 |
| NC_000001.9:g.109970529G>C | NCBI36 |
| NG_034075.1:g.11572G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.488G>C | ENSP00000256578.4:p.Arg163Pro | |
| ENST00000358729.9:c.488G>C | ENSP00000351573.5:p.Arg163Pro | |
| ENST00000369840.7:c.488G>C | ENSP00000358855.3:p.Arg163Pro | |
| ENST00000474459.6:n.845G>C | ||
| ENST00000476688.3:c.170G>C | ENSP00000437025.2:p.Arg57Pro | |
| ENST00000486282.7:n.539G>C | ||
| ENST00000524975.2:n.448G>C | ||
| ENST00000525415.2:n.746G>C | ||
| ENST00000526301.6:n.551G>C | ||
| ENST00000527846.7:n.343G>C | ||
| ENST00000528667.7:c.488G>C MANE Select | ENSP00000436541.2:p.Arg163Pro | |
| ENST00000531203.6:c.296G>C | ENSP00000431975.2:p.Arg99Pro | |
| ENST00000531734.6:c.407G>C | ENSP00000433739.2:p.Arg136Pro | |
| ENST00000652975.2:c.*240G>C | ENSP00000499620.2:n.*240G>C | |
| ENST00000654851.1:n.330G>C | ||
| ENST00000655992.1:c.296G>C | ENSP00000499740.1:p.Arg99Pro | |
| ENST00000659122.2:c.488G>C | ENSP00000499621.2:p.Arg163Pro | |
| ENST00000663749.1:c.*240G>C | ENSP00000499739.1:n.*240G>C | |
| ENST00000667949.2:c.-113G>C | ENSP00000499465.2:n.-113G>C | |
| ENST00000668421.1:c.*429G>C | ENSP00000499362.1:n.*429G>C | |
| ENST00000679379.1:c.*240G>C | ENSP00000505528.1:n.*240G>C | |
| ENST00000679593.1:c.488G>C | ENSP00000505999.1:p.Arg163Pro | |
| ENST00000679880.1:n.746G>C | ||
| ENST00000679892.1:c.*240G>C | ENSP00000504882.1:n.*240G>C | |
| ENST00000679981.1:c.*240G>C | ENSP00000506422.1:n.*240G>C | |
| ENST00000680132.1:c.*240G>C | ENSP00000505950.1:n.*240G>C | |
| ENST00000680148.1:c.*240G>C | ENSP00000505994.1:n.*240G>C | |
| ENST00000680170.1:n.746G>C | ||
| ENST00000680192.1:n.839G>C | ||
| ENST00000680519.1:n.708G>C | ||
| ENST00000680531.1:c.*240G>C | ENSP00000506332.1:n.*240G>C | |
| ENST00000680820.1:c.*240G>C | ENSP00000505735.1:n.*240G>C | |
| ENST00000680832.1:c.*240G>C | ENSP00000505774.1:n.*240G>C | |
| ENST00000680929.1:c.*240G>C | ENSP00000504916.1:n.*240G>C | |
| ENST00000681108.1:c.*240G>C | ENSP00000506701.1:n.*240G>C | |
| ENST00000681121.1:c.296G>C | ENSP00000506466.1:p.Arg99Pro | |
| ENST00000681132.1:c.*240G>C | ENSP00000506195.1:n.*240G>C | |
| ENST00000681181.1:c.*240G>C | ENSP00000506038.1:n.*240G>C | |
| ENST00000681218.1:c.*240G>C | ENSP00000505976.1:n.*240G>C | |
| ENST00000681246.1:c.*144G>C | ENSP00000505534.1:n.*144G>C | |
| ENST00000681496.1:c.*240G>C | ENSP00000505948.1:n.*240G>C | |
| ENST00000681834.1:n.565G>C | ||
| ENST00000681862.1:c.*240G>C | ENSP00000505537.1:n.*240G>C | |
| ENST00000256578.7:c.650G>C | ENSP00000256578.3:p.Arg217Pro | |
| ENST00000342115.8:c.407G>C | ENSP00000345498.4:p.Arg136Pro | |
| ENST00000358729.8:c.425G>C | ENSP00000351573.4:p.Arg142Pro | |
| ENST00000369840.6:c.561G>C | ||
| ENST00000393688.7:c.293G>C | ENSP00000377292.3:p.Arg98Pro | |
| ENST00000459643.2:n.517G>C | ||
| ENST00000474459.5:c.-113G>C | ENSP00000432344.1:n.-113G>C | |
| ENST00000486282.6:n.508G>C | ||
| ENST00000525415.1:n.97G>C | ||
| ENST00000526301.5:n.689G>C | ||
| ENST00000527846.5:c.551G>C | ENSP00000431904.1:p.Arg184Pro | |
| ENST00000528454.5:c.296G>C | ENSP00000437164.1:p.Arg99Pro | |
| ENST00000528667.5:c.650G>C | ENSP00000436541.1:p.Arg217Pro | |
| ENST00000534144.1:n.314G>C | ||
| NM_001257360.1:c.650G>C | NP_001244289.1:p.Arg217Pro | |
| NM_001257361.1:c.296G>C | NP_001244290.1:p.Arg99Pro | |
| NM_001308170.1:c.425G>C | NP_001295099.1:p.Arg142Pro | |
| NM_004037.7:c.650G>C | NP_004028.3:p.Arg217Pro | |
| NM_139156.3:c.407G>C | NP_631895.1:p.Arg136Pro | |
| NM_203404.1:c.293G>C | NP_981949.1:p.Arg98Pro | |
| XM_011541247.1:c.863G>C | XP_011539549.1:p.Arg288Pro | |
| XM_011541248.1:c.863G>C | XP_011539550.1:p.Arg288Pro | |
| XR_946607.1:n.886G>C | ||
| XM_024446431.1:c.425G>C | XP_024302199.1:p.Arg142Pro | |
| XM_024446432.1:c.425G>C | XP_024302200.1:p.Arg142Pro | |
| XR_002956282.1:n.1061G>C | ||
| NM_001257360.2:c.650G>C | NP_001244289.1:p.Arg217Pro | |
| NM_001368809.2:c.488G>C MANE Select | NP_001355738.1:p.Arg163Pro | |
| NM_004037.9:c.488G>C | NP_004028.4:p.Arg163Pro | |
| NM_001257361.2:c.296G>C | NP_001244290.1:p.Arg99Pro | |
| NM_139156.4:c.407G>C | NP_631895.1:p.Arg136Pro |