Linked Data
ClinVar Variation Id:
461657
dbSNP Id:
rs373925818
ExAC:
7:872184 T / C
gnomAD v2:
7-872184-T-C
gnomAD v3:
7-832547-T-C
gnomAD v4:
7-832547-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.832547T>C , CM000669.2:g.832547T>C | GRCh38 |
| NC_000007.13:g.872184T>C , CM000669.1:g.872184T>C | GRCh37 |
| NC_000007.12:g.838710T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401592.6:c.23T>C MANE Select | ENSP00000384015.1:p.Met8Thr | |
| ENST00000340926.7:n.47T>C | ||
| ENST00000389574.7:c.-73-6251T>C | ENSP00000374225.3:n.-73-6251T>C | |
| ENST00000401592.5:c.23T>C | ENSP00000384015.1:p.Met8Thr | |
| ENST00000403868.5:c.23T>C | ENSP00000383947.1:p.Met8Thr | |
| ENST00000405266.5:c.23T>C | ENSP00000384116.1:p.Met8Thr | |
| ENST00000413171.6:n.47T>C | ||
| ENST00000421580.5:c.23T>C | ENSP00000394381.1:p.Met8Thr | |
| ENST00000424128.5:c.23T>C | ENSP00000394597.1:p.Met8Thr | |
| ENST00000425407.6:c.-128T>C | ENSP00000392309.2:n.-128T>C | |
| ENST00000427969.5:n.60-6251T>C | ||
| ENST00000435699.5:c.23T>C | ENSP00000388430.1:p.Met8Thr | |
| ENST00000439679.5:c.23T>C | ENSP00000413188.1:p.Met8Thr | |
| ENST00000440380.5:c.23T>C | ENSP00000399549.1:p.Met8Thr | |
| ENST00000450538.5:n.102T>C | ||
| ENST00000452783.6:c.23T>C | ENSP00000413439.2:p.Met8Thr | |
| ENST00000457378.6:c.86T>C | ENSP00000395952.2:p.Met29Thr | |
| ENST00000457598.5:c.23T>C | ENSP00000404965.1:p.Met8Thr | |
| ENST00000467483.5:n.43T>C | ||
| ENST00000483996.1:n.41T>C | ||
| NM_001130965.2:c.23T>C | NP_001124437.1:p.Met8Thr | |
| NM_001171944.1:c.23T>C | NP_001165415.1:p.Met8Thr | |
| NM_001171945.1:c.86T>C | NP_001165416.1:p.Met29Thr | |
| NM_001171946.1:c.23T>C | NP_001165417.1:p.Met8Thr | |
| NM_025154.5:c.-73-6251T>C | NP_079430.3:n.-73-6251T>C | |
| NM_001130965.3:c.23T>C MANE Select | NP_001124437.1:p.Met8Thr | |
| NM_001171944.2:c.23T>C | NP_001165415.1:p.Met8Thr | |
| NM_001171945.2:c.86T>C | NP_001165416.1:p.Met29Thr | |
| NM_001171946.2:c.23T>C | NP_001165417.1:p.Met8Thr | |
| NM_001367633.1:c.23T>C | NP_001354562.1:p.Met8Thr | |
| NM_001367634.1:c.23T>C | NP_001354563.1:p.Met8Thr | |
| NM_001367635.1:c.-435T>C | NP_001354564.1:n.-435T>C | |
| NM_001367636.1:c.-73-6251T>C | NP_001354565.1:n.-73-6251T>C | |
| NM_001367637.1:c.-73-6251T>C | NP_001354566.1:n.-73-6251T>C | |
| NM_001367638.1:c.23T>C | NP_001354567.1:p.Met8Thr | |
| NM_001367639.1:c.-301-9399T>C | NP_001354568.1:n.-301-9399T>C | |
| NM_001367640.1:c.23T>C | NP_001354569.1:p.Met8Thr | |
| NM_001367641.1:c.23T>C | NP_001354570.1:p.Met8Thr | |
| NM_001367642.1:c.23T>C | NP_001354571.1:p.Met8Thr | |
| NM_001367643.1:c.23T>C | NP_001354572.1:p.Met8Thr | |
| NM_001367644.1:c.-73-6251T>C | NP_001354573.1:n.-73-6251T>C | |
| NM_001367645.1:c.-73-6251T>C | NP_001354574.1:n.-73-6251T>C | |
| NM_001367646.1:c.-73-6251T>C | NP_001354575.1:n.-73-6251T>C | |
| NM_001367647.1:c.-73-6251T>C | NP_001354576.1:n.-73-6251T>C | |
| NM_001367648.1:c.-73-6251T>C | NP_001354577.1:n.-73-6251T>C | |
| NM_001367649.1:c.-73-6251T>C | NP_001354578.1:n.-73-6251T>C | |
| NM_001367651.1:c.297-6251T>C | NP_001354580.1:n.297-6251T>C | |
| NM_001367653.1:c.23T>C | NP_001354582.1:p.Met8Thr | |
| NM_001367655.1:c.-73-6251T>C | NP_001354584.1:n.-73-6251T>C | |
| NM_001367658.1:c.-684-6251T>C | NP_001354587.1:n.-684-6251T>C | |
| NM_001367660.1:c.-73-6251T>C | NP_001354589.1:n.-73-6251T>C | |
| NM_001367662.1:c.-73-6251T>C | NP_001354591.1:n.-73-6251T>C | |
| NM_001367664.1:c.23T>C | NP_001354593.1:p.Met8Thr | |
| NM_001367665.1:c.23T>C | NP_001354594.1:p.Met8Thr | |
| NM_001367666.1:c.-73-6251T>C | NP_001354595.1:n.-73-6251T>C | |
| NM_001367667.1:c.-73-6251T>C | NP_001354596.1:n.-73-6251T>C | |
| NM_001367668.1:c.-73-6251T>C | NP_001354597.1:n.-73-6251T>C | |
| NM_001367669.1:c.23T>C | NP_001354598.1:p.Met8Thr | |
| NM_001367670.1:c.-73-6251T>C | NP_001354599.1:n.-73-6251T>C | |
| NM_001367671.1:c.-73-6251T>C | NP_001354600.1:n.-73-6251T>C | |
| NM_001367672.1:c.23T>C | NP_001354601.1:p.Met8Thr | |
| NM_001367673.1:c.-73-6251T>C | NP_001354602.1:n.-73-6251T>C | |
| NM_001367674.1:c.23T>C | NP_001354603.1:p.Met8Thr | |
| NM_001367675.1:c.23T>C | NP_001354604.1:p.Met8Thr | |
| NM_001367676.1:c.23T>C | NP_001354605.1:p.Met8Thr | |
| NM_001367677.1:c.23T>C | NP_001354606.1:p.Met8Thr | |
| NM_001367678.1:c.23T>C | NP_001354607.1:p.Met8Thr | |
| NM_001367679.1:c.-73-6251T>C | NP_001354608.1:n.-73-6251T>C | |
| NM_001367680.1:c.-73-6251T>C | NP_001354609.1:n.-73-6251T>C | |
| NM_001367681.1:c.-73-6251T>C | NP_001354610.1:n.-73-6251T>C | |
| NM_001367682.1:c.23T>C | NP_001354611.1:p.Met8Thr | |
| NM_001367683.1:c.23T>C | NP_001354612.1:p.Met8Thr | |
| NM_001367684.1:c.-73-6251T>C | NP_001354613.1:n.-73-6251T>C | |
| NM_001367685.1:c.23T>C | NP_001354614.1:p.Met8Thr | |
| NM_001367686.1:c.-73-6251T>C | NP_001354615.1:n.-73-6251T>C | |
| NM_001367687.1:c.23T>C | NP_001354616.1:p.Met8Thr | |
| NM_001367688.1:c.23T>C | NP_001354617.1:p.Met8Thr | |
| NM_001367689.1:c.-73-6251T>C | NP_001354618.1:n.-73-6251T>C | |
| NM_001367690.1:c.23T>C | NP_001354619.1:p.Met8Thr | |
| NM_001367691.1:c.-73-6251T>C | NP_001354620.1:n.-73-6251T>C | |
| NM_001367692.1:c.23T>C | NP_001354621.1:p.Met8Thr | |
| NM_001367693.1:c.23T>C | NP_001354622.1:p.Met8Thr | |
| NM_001367694.1:c.23T>C | NP_001354623.1:p.Met8Thr | |
| NM_001367695.1:c.23T>C | NP_001354624.1:p.Met8Thr | |
| NM_001367696.1:c.23T>C | NP_001354625.1:p.Met8Thr | |
| NM_001367697.1:c.23T>C | NP_001354626.1:p.Met8Thr | |
| NM_001367698.1:c.23T>C | NP_001354627.1:p.Met8Thr | |
| NM_001367699.1:c.23T>C | NP_001354628.1:p.Met8Thr | |
| NM_001367700.1:c.23T>C | NP_001354629.1:p.Met8Thr | |
| NM_001367701.1:c.-73-6251T>C | NP_001354630.1:n.-73-6251T>C | |
| NM_001367702.1:c.23T>C | NP_001354631.1:p.Met8Thr | |
| NM_001367703.1:c.23T>C | NP_001354632.1:p.Met8Thr | |
| NM_001367704.1:c.23T>C | NP_001354633.1:p.Met8Thr | |
| NM_001367705.1:c.23T>C | NP_001354634.1:p.Met8Thr | |
| NM_001367706.1:c.-73-6251T>C | NP_001354635.1:n.-73-6251T>C | |
| NM_001367707.1:c.-73-6251T>C | NP_001354636.1:n.-73-6251T>C | |
| NM_025154.6:c.-73-6251T>C | NP_079430.3:n.-73-6251T>C | |
| NR_160281.1:n.74T>C | ||
| NR_160282.1:n.74T>C | ||
| NR_160283.1:n.74T>C |