Linked Data
dbSNP Id:
rs747953692
ExAC:
11:1774860 A / G
gnomAD v2:
11-1774860-A-G
gnomAD v4:
11-1753630-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753630A>G , CM000673.2:g.1753630A>G | GRCh38 |
| NC_000011.9:g.1774860A>G , CM000673.1:g.1774860A>G | GRCh37 |
| NC_000011.8:g.1731436A>G | NCBI36 |
| NG_008655.1:g.15363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1112T>C MANE Select | ENSP00000236671.2:p.Met371Thr | |
| ENST00000367196.4:c.1007T>C | ENSP00000356164.4:p.Met336Thr | |
| ENST00000427721.3:c.537T>C | ||
| ENST00000429746.2:c.1007T>C | ENSP00000402586.2:p.Met336Thr | |
| ENST00000433655.6:c.*278T>C | ENSP00000404902.1:n.*278T>C | |
| ENST00000438213.6:c.1229T>C | ENSP00000415036.2:p.Met410Thr | |
| ENST00000636397.1:c.1071+173T>C | ENSP00000489910.1:n.1071+173T>C | |
| ENST00000636571.1:c.1091T>C | ENSP00000490770.1:p.Met364Thr | |
| ENST00000636579.1:c.72+173T>C | ENSP00000490489.1:n.72+173T>C | |
| ENST00000636615.1:c.1071+173T>C | ENSP00000490014.1:n.1071+173T>C | |
| ENST00000636843.1:c.1106T>C | ENSP00000490897.1:p.Met369Thr | |
| ENST00000637158.1:n.710T>C | ||
| ENST00000637381.2:n.3540T>C | ||
| ENST00000637387.1:c.1091T>C | ENSP00000490598.1:p.Met364Thr | |
| ENST00000637815.2:c.1094T>C | ENSP00000490344.1:p.Met365Thr | |
| ENST00000637915.1:c.1103T>C | ENSP00000490471.1:p.Met368Thr | |
| ENST00000637937.1:n.420T>C | ||
| ENST00000678991.1:c.*973T>C | ENSP00000503019.1:n.*973T>C | |
| ENST00000236671.6:c.1112T>C | ENSP00000236671.2:p.Met371Thr | |
| ENST00000427721.2:c.471+173T>C | ENSP00000415840.2:n.471+173T>C | |
| ENST00000429746.1:c.443T>C | ENSP00000402586.1:p.Met148Thr | |
| ENST00000433655.5:c.*278T>C | ENSP00000404902.1:n.*278T>C | |
| NM_001909.4:c.1112T>C | NP_001900.1:p.Met371Thr | |
| NM_001909.5:c.1112T>C MANE Select | NP_001900.1:p.Met371Thr |