Linked Data
ClinVar Variation Id:
444390
dbSNP Id:
rs548219603
gnomAD v2:
17-556555-G-A
gnomAD v3:
17-653315-G-A
gnomAD v4:
17-653315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.653315G>A , CM000679.2:g.653315G>A | GRCh38 |
| NC_000017.10:g.556555G>A , CM000679.1:g.556555G>A | GRCh37 |
| NC_000017.9:g.503305G>A | NCBI36 |
| NG_034190.1:g.66542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.497C>T | ENSP00000291074.5:p.Pro166Leu | |
| ENST00000437048.7:c.584C>T MANE Select | ENSP00000401435.2:p.Pro195Leu | |
| ENST00000570650.2:c.212C>T | ENSP00000458651.2:p.Pro71Leu | |
| ENST00000571805.6:c.584C>T | ENSP00000459312.1:p.Pro195Leu | |
| ENST00000572334.7:c.215C>T | ENSP00000506188.1:p.Pro72Leu | |
| ENST00000576019.6:c.584C>T | ENSP00000461429.2:p.Pro195Leu | |
| ENST00000679361.1:c.584C>T | ENSP00000504978.1:p.Pro195Leu | |
| ENST00000679680.1:c.434C>T | ENSP00000506269.1:p.Pro145Leu | |
| ENST00000679959.1:c.212C>T | ENSP00000506180.1:p.Pro71Leu | |
| ENST00000679961.1:c.380C>T | ENSP00000505902.1:p.Pro127Leu | |
| ENST00000680069.1:c.584C>T | ENSP00000505145.1:p.Pro195Leu | |
| ENST00000680114.1:c.212C>T | ENSP00000505327.1:p.Pro71Leu | |
| ENST00000680128.1:c.380C>T | ENSP00000506159.1:p.Pro127Leu | |
| ENST00000680274.1:n.290C>T | ||
| ENST00000680465.1:c.584C>T | ENSP00000505997.1:p.Pro195Leu | |
| ENST00000680641.1:c.*404C>T | ENSP00000505237.1:n.*404C>T | |
| ENST00000680704.1:c.215C>T | ENSP00000506453.1:p.Pro72Leu | |
| ENST00000680872.1:c.584C>T | ENSP00000506605.1:p.Pro195Leu | |
| ENST00000680944.1:n.123C>T | ||
| ENST00000680958.1:n.548C>T | ||
| ENST00000681035.1:n.467C>T | ||
| ENST00000681096.1:c.125C>T | ENSP00000506052.1:p.Pro42Leu | |
| ENST00000681120.1:c.215C>T | ENSP00000506067.1:p.Pro72Leu | |
| ENST00000681133.1:c.584C>T | ENSP00000506475.1:p.Pro195Leu | |
| ENST00000681154.1:c.497C>T | ENSP00000505866.1:p.Pro166Leu | |
| ENST00000681160.1:c.215C>T | ENSP00000504905.1:p.Pro72Leu | |
| ENST00000681229.1:c.*57C>T | ENSP00000505837.1:n.*57C>T | |
| ENST00000681317.1:c.584C>T | ENSP00000505190.1:p.Pro195Leu | |
| ENST00000681478.1:c.*404C>T | ENSP00000505041.1:n.*404C>T | |
| ENST00000681510.1:c.434C>T | ENSP00000505594.1:p.Pro145Leu | |
| ENST00000681661.1:c.584C>T | ENSP00000506596.1:p.Pro195Leu | |
| ENST00000681830.1:c.212C>T | ENSP00000505322.1:p.Pro71Leu | |
| ENST00000681902.1:c.584C>T | ENSP00000505328.1:p.Pro195Leu | |
| ENST00000681917.1:c.584C>T | ENSP00000505944.1:p.Pro195Leu | |
| ENST00000681943.1:c.212C>T | ENSP00000504889.1:p.Pro71Leu | |
| ENST00000681946.1:c.584C>T | ENSP00000505563.1:p.Pro195Leu | |
| ENST00000291074.9:c.497C>T | ENSP00000291074.5:p.Pro166Leu | |
| ENST00000389040.9:c.584C>T | ENSP00000373692.5:p.Pro195Leu | |
| ENST00000401468.7:c.285+44103C>T | ENSP00000384294.3:n.285+44103C>T | |
| ENST00000437048.6:c.584C>T | ENSP00000401435.2:p.Pro195Leu | |
| ENST00000571805.5:c.584C>T | ENSP00000459312.1:p.Pro195Leu | |
| ENST00000572334.6:n.458C>T | ||
| ENST00000573028.5:c.584C>T | ENSP00000458311.1:p.Pro195Leu | |
| ENST00000574029.5:c.206+46028C>T | ENSP00000459159.1:n.206+46028C>T | |
| ENST00000576149.5:n.229-21687C>T | ||
| NM_001128159.2:c.584C>T | NP_001121631.1:p.Pro195Leu | |
| NM_018289.3:c.497C>T | NP_060759.2:p.Pro166Leu | |
| XM_011523953.1:c.-109C>T | XP_011522255.1:n.-109C>T | |
| XR_934061.1:n.731C>T | ||
| XR_934062.1:n.731C>T | ||
| NM_001366253.1:c.584C>T | NP_001353182.1:p.Pro195Leu | |
| NM_001366254.1:c.-109C>T | NP_001353183.1:n.-109C>T | |
| XM_017024817.2:c.434C>T | XP_016880306.1:p.Pro145Leu | |
| XM_017024818.1:c.215C>T | XP_016880307.1:p.Pro72Leu | |
| XR_001752553.2:n.721C>T | ||
| XR_934061.3:n.721C>T | ||
| XR_934062.2:n.721C>T | ||
| NM_001128159.3:c.584C>T MANE Select | NP_001121631.1:p.Pro195Leu | |
| NM_001366253.2:c.584C>T | NP_001353182.1:p.Pro195Leu | |
| NM_001366254.2:c.-109C>T | NP_001353183.1:n.-109C>T | |
| NM_018289.4:c.497C>T | NP_060759.2:p.Pro166Leu |