Linked Data
dbSNP Id:
rs369730592
ExAC:
19:1106445 T / C
gnomAD v2:
19-1106445-T-C
gnomAD v3:
19-1106446-T-C
gnomAD v4:
19-1106446-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106446T>C , CM000681.2:g.1106446T>C | GRCh38 |
| NC_000019.9:g.1106445T>C , CM000681.1:g.1106445T>C | GRCh37 |
| NC_000019.8:g.1057445T>C | NCBI36 |
| NG_050621.1:g.7521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.659T>C | ENSP00000473614.3:p.Met220Thr | |
| ENST00000593032.6:c.528T>C | ENSP00000465828.4:p.His176= | |
| ENST00000706713.1:c.542T>C | ENSP00000516510.1:p.Met181Thr | |
| ENST00000706714.1:c.528T>C | ENSP00000516511.1:p.His176= | |
| ENST00000706715.1:c.164T>C | ENSP00000516512.1:p.Met55Thr | |
| ENST00000354171.13:c.548T>C MANE Select | ENSP00000346103.7:p.Met183Thr | |
| ENST00000589115.6:c.523T>C | ENSP00000466872.3:p.Trp175Arg | |
| ENST00000354171.12:c.548T>C | ENSP00000346103.7:p.Met183Thr | |
| ENST00000585480.1:c.281T>C | ENSP00000467900.1:p.Met94Thr | |
| ENST00000587648.5:c.428T>C | ENSP00000468349.1:p.Met143Thr | |
| ENST00000588919.5:c.489T>C | ENSP00000464989.3:p.His163= | |
| ENST00000589115.5:c.523T>C | ENSP00000466872.2:p.Trp175Arg | |
| ENST00000592940.2:n.919T>C | ||
| ENST00000611653.4:c.467T>C | ENSP00000483655.1:p.Met156Thr | |
| ENST00000616066.4:c.545T>C | ENSP00000485000.1:p.Met182Thr | |
| ENST00000622390.4:c.656T>C | ENSP00000477503.1:p.Met219Thr | |
| NM_001039847.2:c.570T>C | NP_001034936.1:p.His190= | |
| NM_001039848.2:c.659T>C | NP_001034937.1:p.Met220Thr | |
| NM_002085.4:c.548T>C | NP_002076.2:p.Met183Thr | |
| NM_001039848.3:c.659T>C | NP_001034937.1:p.Met220Thr | |
| NM_001039847.3:c.570T>C | NP_001034936.1:p.His190= | |
| NM_001039848.4:c.659T>C | NP_001034937.1:p.Met220Thr | |
| NM_001367832.1:c.467T>C | NP_001354761.1:p.Met156Thr | |
| NM_002085.5:c.548T>C MANE Select | NP_002076.2:p.Met183Thr |