Linked Data
ClinVar Variation Id:
229132
dbSNP Id:
rs766772151
ExAC:
10:56287601 A / G
gnomAD v2:
10-56287601-A-G
gnomAD v3:
10-54527841-A-G
gnomAD v4:
10-54527841-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.54527841A>G , CM000672.2:g.54527841A>G | GRCh38 |
| NC_000010.10:g.56287601A>G , CM000672.1:g.56287601A>G | GRCh37 |
| NC_000010.9:g.55957607A>G | NCBI36 |
| NG_009191.2:g.278451T>C | |
| NG_009191.3:g.1106342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.143T>C | ENSP00000482794.1:p.Ile48Thr | |
| ENST00000320301.11:c.128T>C MANE Plus Clinical | ENSP00000322604.6:p.Ile43Thr | |
| ENST00000395445.6:c.128T>C | ENSP00000378832.2:p.Ile43Thr | |
| ENST00000613657.5:c.143T>C | ENSP00000482794.1:p.Ile48Thr | |
| ENST00000644397.2:c.128T>C MANE Select | ENSP00000495195.1:p.Ile43Thr | |
| ENST00000320301.10:c.128T>C | ENSP00000322604.6:p.Ile43Thr | |
| ENST00000361849.7:c.128T>C | ENSP00000354950.3:p.Ile43Thr | |
| ENST00000373955.5:c.128T>C | ENSP00000363066.1:p.Ile43Thr | |
| ENST00000373956.7:c.128T>C | ENSP00000363067.4:p.Ile43Thr | |
| ENST00000373957.7:c.143T>C | ENSP00000363068.4:p.Ile48Thr | |
| ENST00000373965.6:c.128T>C | ENSP00000363076.3:p.Ile43Thr | |
| ENST00000395430.5:c.128T>C | ENSP00000378818.1:p.Ile43Thr | |
| ENST00000395432.6:c.128T>C | ENSP00000378820.2:p.Ile43Thr | |
| ENST00000395433.5:c.91+136331T>C | ENSP00000378821.1:n.91+136331T>C | |
| ENST00000395438.5:c.128T>C | ENSP00000378826.2:p.Ile43Thr | |
| ENST00000395440.5:c.128T>C | ENSP00000378827.1:p.Ile43Thr | |
| ENST00000395442.5:c.128T>C | ENSP00000378829.1:p.Ile43Thr | |
| ENST00000395445.5:c.128T>C | ENSP00000378832.2:p.Ile43Thr | |
| ENST00000395446.5:c.128T>C | ENSP00000378833.1:p.Ile43Thr | |
| ENST00000409834.5:c.-91+136331T>C | ENSP00000386693.1:n.-91+136331T>C | |
| ENST00000414367.5:c.128T>C | ENSP00000412531.1:p.Ile43Thr | |
| ENST00000414778.5:c.128T>C | ENSP00000410304.2:p.Ile43Thr | |
| ENST00000437009.5:c.128T>C | ENSP00000412628.2:p.Ile43Thr | |
| ENST00000448885.5:c.128T>C | ENSP00000412320.1:p.Ile43Thr | |
| ENST00000458638.1:c.128T>C | ENSP00000394465.1:p.Ile43Thr | |
| ENST00000495484.5:c.-25+273084T>C | ENSP00000480780.1:n.-25+273084T>C | |
| ENST00000612394.4:c.143T>C | ENSP00000482921.1:p.Ile48Thr | |
| ENST00000613346.4:c.91+136331T>C | ENSP00000481211.1:n.91+136331T>C | |
| ENST00000613657.4:c.143T>C | ENSP00000482794.1:p.Ile48Thr | |
| ENST00000614895.4:c.143T>C | ENSP00000478512.1:p.Ile48Thr | |
| ENST00000616114.4:c.128T>C | ENSP00000483745.1:p.Ile43Thr | |
| ENST00000617051.4:c.143T>C | ENSP00000484703.1:p.Ile48Thr | |
| ENST00000617271.4:c.128T>C | ENSP00000478076.1:p.Ile43Thr | |
| ENST00000621708.4:c.143T>C | ENSP00000484454.1:p.Ile48Thr | |
| ENST00000622048.4:c.128T>C | ENSP00000482329.1:p.Ile43Thr | |
| NM_001142763.1:c.143T>C | NP_001136235.1:p.Ile48Thr | |
| NM_001142764.1:c.128T>C | NP_001136236.1:p.Ile43Thr | |
| NM_001142765.1:c.128T>C | NP_001136237.1:p.Ile43Thr | |
| NM_001142766.1:c.128T>C | NP_001136238.1:p.Ile43Thr | |
| NM_001142767.1:c.128T>C | NP_001136239.1:p.Ile43Thr | |
| NM_001142768.1:c.91+136331T>C | NP_001136240.1:n.91+136331T>C | |
| NM_001142769.1:c.143T>C | NP_001136241.1:p.Ile48Thr | |
| NM_001142770.1:c.128T>C | NP_001136242.1:p.Ile43Thr | |
| NM_001142771.1:c.143T>C | NP_001136243.1:p.Ile48Thr | |
| NM_001142772.1:c.128T>C | NP_001136244.1:p.Ile43Thr | |
| NM_001142773.1:c.91+136331T>C | NP_001136245.1:n.91+136331T>C | |
| NM_033056.3:c.128T>C | NP_149045.3:p.Ile43Thr | |
| XR_945976.1:n.88-40724A>G | ||
| NM_001142769.2:c.143T>C | NP_001136241.1:p.Ile48Thr | |
| NM_001142770.2:c.128T>C | NP_001136242.1:p.Ile43Thr | |
| NM_001354404.1:c.91+136331T>C | NP_001341333.1:n.91+136331T>C | |
| NM_001354411.1:c.128T>C | NP_001341340.1:p.Ile43Thr | |
| NM_001354420.1:c.128T>C | NP_001341349.1:p.Ile43Thr | |
| NM_001354429.1:c.128T>C | NP_001341358.1:p.Ile43Thr | |
| NM_001354430.1:c.128T>C | NP_001341359.1:p.Ile43Thr | |
| NR_134503.1:n.88-40724A>G | ||
| XM_017016573.2:c.143T>C | XP_016872062.1:p.Ile48Thr | |
| XR_001747192.2:n.1141T>C | ||
| XR_001747193.2:n.1141T>C | ||
| NM_001142763.2:c.143T>C | NP_001136235.1:p.Ile48Thr | |
| NM_001142764.2:c.128T>C | NP_001136236.1:p.Ile43Thr | |
| NM_001142765.2:c.128T>C | NP_001136237.1:p.Ile43Thr | |
| NM_001142766.2:c.128T>C | NP_001136238.1:p.Ile43Thr | |
| NM_001142768.2:c.91+136331T>C | NP_001136240.1:n.91+136331T>C | |
| NM_001142769.3:c.143T>C | NP_001136241.1:p.Ile48Thr | |
| NM_001142770.3:c.128T>C | NP_001136242.1:p.Ile43Thr | |
| NM_001142771.2:c.143T>C | NP_001136243.1:p.Ile48Thr | |
| NM_001142772.2:c.128T>C | NP_001136244.1:p.Ile43Thr | |
| NM_001142773.2:c.91+136331T>C | NP_001136245.1:n.91+136331T>C | |
| NM_001354411.2:c.128T>C | NP_001341340.1:p.Ile43Thr | |
| NM_001354420.2:c.128T>C | NP_001341349.1:p.Ile43Thr | |
| NM_001354429.2:c.128T>C | NP_001341358.1:p.Ile43Thr | |
| NM_001354430.2:c.128T>C | NP_001341359.1:p.Ile43Thr | |
| NM_033056.4:c.128T>C MANE Plus Clinical | NP_149045.3:p.Ile43Thr | |
| NM_001142767.2:c.128T>C | NP_001136239.1:p.Ile43Thr | |
| NM_001354404.2:c.91+136331T>C | NP_001341333.1:n.91+136331T>C | |
| NM_001384140.1:c.128T>C MANE Select | NP_001371069.1:p.Ile43Thr |