Linked Data
dbSNP Id:
rs139750092
ExAC:
6:31937138 T / C
gnomAD v2:
6-31937138-T-C
gnomAD v3:
6-31969361-T-C
gnomAD v4:
6-31969361-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969361T>C , CM000668.2:g.31969361T>C | GRCh38 |
| NC_000006.11:g.31937138T>C , CM000668.1:g.31937138T>C | GRCh37 |
| NC_000006.10:g.32045117T>C | NCBI36 |
| NG_032652.1:g.15558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2435T>C | ENSP00000419905.1:n.*2435T>C | |
| ENST00000483553.6:c.*448T>C | ENSP00000420332.2:n.*448T>C | |
| ENST00000485349.6:n.3957T>C | ||
| ENST00000491994.2:c.3481T>C | ENSP00000417586.2:p.Phe1161Leu | |
| ENST00000494058.6:n.3783T>C | ||
| ENST00000697831.1:c.3412T>C | ENSP00000513453.1:p.Phe1138Leu | |
| ENST00000697832.1:n.3634T>C | ||
| ENST00000697833.1:c.*429T>C | ENSP00000513454.1:n.*429T>C | |
| ENST00000697834.1:n.4105T>C | ||
| ENST00000697835.1:c.*2999T>C | ENSP00000513455.1:n.*2999T>C | |
| ENST00000697836.1:n.3812T>C | ||
| ENST00000697837.1:c.*597T>C | ENSP00000513456.1:n.*597T>C | |
| ENST00000697838.1:c.3346T>C | ENSP00000513457.1:p.Phe1116Leu | |
| ENST00000697839.1:n.4199T>C | ||
| ENST00000697840.1:c.3517T>C | ENSP00000513458.1:p.Phe1173Leu | |
| ENST00000697841.1:n.4298T>C | ||
| ENST00000697842.1:n.3736T>C | ||
| ENST00000375394.7:c.3481T>C MANE Select | ENSP00000364543.2:p.Phe1161Leu | |
| ENST00000375394.6:c.3481T>C | ENSP00000364543.2:p.Phe1161Leu | |
| ENST00000465703.5:n.4117T>C | ||
| ENST00000470453.1:n.382+45T>C | ||
| ENST00000471818.1:n.410T>C | ||
| ENST00000474839.5:c.*2853T>C | ENSP00000420470.1:n.*2853T>C | |
| ENST00000483553.5:c.917T>C | ||
| ENST00000485349.5:n.687T>C | ||
| ENST00000491994.1:c.476T>C | ||
| NM_006929.4:c.3481T>C | NP_008860.4:p.Phe1161Leu | |
| XR_001743586.2:n.3580T>C | ||
| XR_926301.3:n.3497T>C | ||
| NM_006929.5:c.3481T>C MANE Select | NP_008860.4:p.Phe1161Leu |