Linked Data
ClinVar Variation Id:
476855
dbSNP Id:
rs201138266
ExAC:
6:110110854 A / G
gnomAD v2:
6-110110854-A-G
gnomAD v3:
6-109789651-A-G
gnomAD v4:
6-109789651-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109789651A>G , CM000668.2:g.109789651A>G | GRCh38 |
| NC_000006.11:g.110110854A>G , CM000668.1:g.110110854A>G | GRCh37 |
| NC_000006.10:g.110217547A>G | NCBI36 |
| NG_007977.1:g.103431A>G , LRG_241:g.103431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2154A>G MANE Select | ENSP00000230124.4:p.Pro718= | |
| ENST00000415980.2:c.660A>G | ENSP00000405660.2:p.Pro220= | |
| ENST00000419951.2:n.502A>G | ||
| ENST00000674532.1:n.5350A>G | ||
| ENST00000674557.1:c.*1447A>G | ENSP00000501608.1:n.*1447A>G | |
| ENST00000674569.1:c.*1273A>G | ENSP00000502769.1:n.*1273A>G | |
| ENST00000674571.1:c.*1273A>G | ENSP00000501633.1:n.*1273A>G | |
| ENST00000674575.1:c.*1273A>G | ENSP00000502276.1:n.*1273A>G | |
| ENST00000674641.1:c.1809A>G | ENSP00000501609.1:p.Pro603= | |
| ENST00000674644.1:c.1224A>G | ENSP00000502201.1:p.Pro408= | |
| ENST00000674649.1:c.*1847A>G | ENSP00000501669.1:n.*1847A>G | |
| ENST00000674657.1:c.*1586A>G | ENSP00000502314.1:n.*1586A>G | |
| ENST00000674744.1:c.2148A>G | ENSP00000501661.1:p.Pro716= | |
| ENST00000674778.1:c.*1372A>G | ENSP00000502742.1:n.*1372A>G | |
| ENST00000674783.1:c.*1069A>G | ENSP00000502755.1:n.*1069A>G | |
| ENST00000674884.1:c.2172A>G | ENSP00000502668.1:p.Pro724= | |
| ENST00000674930.1:c.*1279A>G | ENSP00000502657.1:n.*1279A>G | |
| ENST00000674933.1:c.1923A>G | ENSP00000502376.1:p.Pro641= | |
| ENST00000674956.1:c.*1368A>G | ENSP00000501904.1:n.*1368A>G | |
| ENST00000675004.1:c.*2106A>G | ENSP00000501868.1:n.*2106A>G | |
| ENST00000675009.1:c.*1538A>G | ENSP00000502098.1:n.*1538A>G | |
| ENST00000675096.1:c.1947A>G | ENSP00000502116.1:p.Pro649= | |
| ENST00000675122.1:c.*261A>G | ENSP00000501810.1:n.*261A>G | |
| ENST00000675153.1:c.*871A>G | ENSP00000501682.1:n.*871A>G | |
| ENST00000675254.1:n.905A>G | ||
| ENST00000675272.1:n.6452A>G | ||
| ENST00000675284.1:c.2154A>G | ENSP00000502758.1:p.Pro718= | |
| ENST00000675301.1:n.811A>G | ||
| ENST00000675311.1:c.*1356A>G | ENSP00000501961.1:n.*1356A>G | |
| ENST00000675426.1:c.*1222A>G | ENSP00000501819.1:n.*1222A>G | |
| ENST00000675523.1:c.1923A>G | ENSP00000502384.1:p.Pro641= | |
| ENST00000675552.1:c.*4417A>G | ENSP00000502197.1:n.*4417A>G | |
| ENST00000675714.1:c.2154A>G | ENSP00000502561.1:p.Pro718= | |
| ENST00000675726.1:c.2154A>G | ENSP00000502452.1:p.Pro718= | |
| ENST00000675772.1:c.2154A>G | ENSP00000501678.1:p.Pro718= | |
| ENST00000675831.1:c.1761A>G | ENSP00000502382.1:p.Pro587= | |
| ENST00000675849.1:n.1776A>G | ||
| ENST00000675879.1:c.999A>G | ||
| ENST00000675887.1:c.*1757A>G | ENSP00000502123.1:n.*1757A>G | |
| ENST00000675954.1:n.3487A>G | ||
| ENST00000675991.1:c.*1273A>G | ENSP00000502162.1:n.*1273A>G | |
| ENST00000675994.1:c.*1293A>G | ENSP00000502419.1:n.*1293A>G | |
| ENST00000676021.1:c.*732A>G | ENSP00000502746.1:n.*732A>G | |
| ENST00000676037.1:c.*81A>G | ENSP00000502181.1:n.*81A>G | |
| ENST00000676136.1:n.4801A>G | ||
| ENST00000676442.1:c.2025A>G | ENSP00000502595.1:p.Pro675= | |
| ENST00000230124.7:c.2154A>G | ENSP00000230124.3:p.Pro718= | |
| ENST00000419951.1:c.75A>G | ENSP00000396566.1:p.Pro25= | |
| NM_014845.5:c.2154A>G , LRG_241t1:c.2154A>G | NP_055660.1:p.Pro718= | |
| XM_011536281.1:c.2091A>G | XP_011534583.1:p.Pro697= | |
| XM_011536281.3:c.2091A>G | XP_011534583.1:p.Pro697= | |
| XM_017011592.1:c.1605A>G | XP_016867081.1:p.Pro535= | |
| XM_017011593.2:c.1224A>G | XP_016867082.1:p.Pro408= | |
| NM_014845.6:c.2154A>G MANE Select | NP_055660.1:p.Pro718= |