Linked Data
ClinVar Variation Id:
318297
dbSNP Id:
rs143248111
ExAC:
16:20360439 T / G
gnomAD v2:
16-20360439-T-G
gnomAD v3:
16-20349117-T-G
gnomAD v4:
16-20349117-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20349117T>G , CM000678.2:g.20349117T>G | GRCh38 |
| NC_000016.9:g.20360439T>G , CM000678.1:g.20360439T>G | GRCh37 |
| NC_000016.8:g.20267940T>G | NCBI36 |
| NG_008151.1:g.8599A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.184A>C MANE Select | ENSP00000379442.5:p.Thr62Pro | |
| ENST00000577168.2:c.184A>C | ENSP00000459738.2:p.Thr62Pro | |
| ENST00000302509.8:c.184A>C | ENSP00000306279.4:p.Thr62Pro | |
| ENST00000396134.6:c.283A>C | ENSP00000379438.2:p.Thr95Pro | |
| ENST00000396138.8:c.331A>C | ENSP00000379442.4:p.Thr111Pro | |
| ENST00000570689.5:c.184A>C | ENSP00000460548.1:p.Thr62Pro | |
| ENST00000570757.5:c.184A>C | ENSP00000459724.1:p.Thr62Pro | |
| ENST00000571174.5:c.184A>C | ENSP00000458939.1:p.Thr62Pro | |
| ENST00000573567.5:c.253A>C | ENSP00000460374.1:p.Thr85Pro | |
| ENST00000574195.5:c.346A>C | ENSP00000460845.1:p.Thr116Pro | |
| ENST00000576546.1:c.184A>C | ENSP00000461120.1:p.Thr62Pro | |
| ENST00000576688.2:c.184A>C | ENSP00000461641.1:p.Thr62Pro | |
| ENST00000577168.1:c.268A>C | ENSP00000459738.1:p.Thr90Pro | |
| NM_001008389.2:c.184A>C | NP_001008390.1:p.Thr62Pro | |
| NM_001278614.1:c.283A>C | NP_001265543.1:p.Thr95Pro | |
| NM_003361.3:c.184A>C | NP_003352.2:p.Thr62Pro | |
| XM_011545934.1:c.268A>C | XP_011544236.1:p.Thr90Pro | |
| XM_011545935.1:c.184A>C | XP_011544237.1:p.Thr62Pro | |
| XM_011545936.1:c.184A>C | XP_011544238.1:p.Thr62Pro | |
| XM_011545937.1:c.184A>C | XP_011544239.1:p.Thr62Pro | |
| XM_011545938.1:c.184A>C | XP_011544240.1:p.Thr62Pro | |
| XM_011545939.1:c.268A>C | XP_011544241.1:p.Thr90Pro | |
| XM_011545940.1:c.331A>C | XP_011544242.1:p.Thr111Pro | |
| XM_011545934.2:c.184A>C | XP_011544236.2:p.Thr62Pro | |
| XM_011545940.2:c.184A>C | XP_011544242.2:p.Thr62Pro | |
| XM_024450433.1:c.184A>C | XP_024306201.1:p.Thr62Pro | |
| NM_001008389.3:c.184A>C | NP_001008390.1:p.Thr62Pro | |
| NM_001278614.2:c.283A>C | NP_001265543.1:p.Thr95Pro | |
| NM_001378232.1:c.184A>C | NP_001365161.1:p.Thr62Pro | |
| NM_001378233.1:c.184A>C | NP_001365162.1:p.Thr62Pro | |
| NM_001378234.1:c.184A>C | NP_001365163.1:p.Thr62Pro | |
| NM_001378235.1:c.184A>C | NP_001365164.1:p.Thr62Pro | |
| NM_001378237.1:c.184A>C | NP_001365166.1:p.Thr62Pro | |
| NM_003361.4:c.184A>C MANE Select | NP_003352.2:p.Thr62Pro | |
| NR_165456.1:n.409A>C |