Linked Data
ClinVar Variation Id:
246216
dbSNP Id:
rs370622071
ExAC:
16:70310483 G / C
gnomAD v2:
16-70310483-G-C
gnomAD v3:
16-70276580-G-C
gnomAD v4:
16-70276580-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70276580G>C , CM000678.2:g.70276580G>C | GRCh38 |
| NC_000016.9:g.70310483G>C , CM000678.1:g.70310483G>C | GRCh37 |
| NC_000016.8:g.68867984G>C | NCBI36 |
| NG_023191.1:g.17930C>G , LRG_359:g.17930C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.385C>G MANE Select | ENSP00000261772.8:p.Pro129Ala | |
| ENST00000564359.6:n.543C>G | ||
| ENST00000565361.3:c.385C>G | ENSP00000455360.3:p.Pro129Ala | |
| ENST00000674512.1:c.385C>G | ENSP00000501613.1:p.Pro129Ala | |
| ENST00000674652.1:c.385C>G | ENSP00000502620.1:p.Pro129Ala | |
| ENST00000674691.1:c.385C>G | ENSP00000502247.1:p.Pro129Ala | |
| ENST00000674768.1:c.385C>G | ENSP00000501679.1:p.Pro129Ala | |
| ENST00000674811.1:c.385C>G | ENSP00000502055.1:p.Pro129Ala | |
| ENST00000674848.1:n.434C>G | ||
| ENST00000674962.1:n.543C>G | ||
| ENST00000674963.1:c.385C>G | ENSP00000501924.1:p.Pro129Ala | |
| ENST00000675035.1:c.385C>G | ENSP00000502712.1:p.Pro129Ala | |
| ENST00000675045.1:c.385C>G | ENSP00000502014.1:p.Pro129Ala | |
| ENST00000675120.1:c.385C>G | ENSP00000502823.1:p.Pro129Ala | |
| ENST00000675133.1:c.385C>G | ENSP00000502230.1:p.Pro129Ala | |
| ENST00000675270.1:n.665C>G | ||
| ENST00000675297.1:c.385C>G | ENSP00000502753.1:p.Pro129Ala | |
| ENST00000675338.1:n.541C>G | ||
| ENST00000675371.1:c.385C>G | ENSP00000502645.1:p.Pro129Ala | |
| ENST00000675403.1:n.543C>G | ||
| ENST00000675569.1:c.385C>G | ENSP00000502534.1:p.Pro129Ala | |
| ENST00000675643.1:c.385C>G | ENSP00000502797.1:p.Pro129Ala | |
| ENST00000675691.1:c.385C>G | ENSP00000502196.1:p.Pro129Ala | |
| ENST00000675751.1:c.385C>G | ENSP00000502277.1:p.Pro129Ala | |
| ENST00000675853.1:c.385C>G | ENSP00000502367.1:p.Pro129Ala | |
| ENST00000675917.1:n.682C>G | ||
| ENST00000675953.1:c.385C>G | ENSP00000502321.1:p.Pro129Ala | |
| ENST00000675986.1:n.543C>G | ||
| ENST00000676004.1:c.*384C>G | ENSP00000502765.1:n.*384C>G | |
| ENST00000676040.1:c.385C>G | ENSP00000502108.1:p.Pro129Ala | |
| ENST00000676168.1:c.385C>G | ENSP00000502479.1:p.Pro129Ala | |
| ENST00000676209.1:c.385C>G | ENSP00000502052.1:p.Pro129Ala | |
| ENST00000676211.1:c.385C>G | ENSP00000502726.1:p.Pro129Ala | |
| ENST00000676212.1:c.385C>G | ENSP00000501853.1:p.Pro129Ala | |
| ENST00000676247.1:c.385C>G | ENSP00000502699.1:p.Pro129Ala | |
| ENST00000261772.12:c.385C>G | ENSP00000261772.7:p.Pro129Ala | |
| NM_001605.2:c.385C>G , LRG_359t1:c.385C>G | NP_001596.2:p.Pro129Ala | |
| XR_933220.1:n.536C>G | ||
| XR_933220.3:n.495C>G | ||
| NM_001605.3:c.385C>G MANE Select | NP_001596.2:p.Pro129Ala |