Linked Data
ClinVar Variation Id:
1268862
ClinVar RCV Id:
RCV001679967
dbSNP Id:
rs713041
ExAC:
19:1106615 T / C
gnomAD v2:
19-1106615-T-C
gnomAD v3:
19-1106616-T-C
gnomAD v4:
19-1106616-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106616T>C , CM000681.2:g.1106616T>C | GRCh38 |
| NC_000019.9:g.1106615T>C , CM000681.1:g.1106615T>C | GRCh37 |
| NC_000019.8:g.1057615T>C | NCBI36 |
| NG_050621.1:g.7691T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585362.7:c.*44T>C | ENSP00000473614.3:n.*44T>C | |
| ENST00000593032.6:c.618T>C | ENSP00000465828.4:p.Leu206= | |
| ENST00000706713.1:c.*44T>C | ENSP00000516510.1:n.*44T>C | |
| ENST00000706714.1:c.618T>C | ENSP00000516511.1:p.Leu206= | |
| ENST00000706715.1:c.*44T>C | ENSP00000516512.1:n.*44T>C | |
| ENST00000354171.13:c.*44T>C MANE Select | ENSP00000346103.7:n.*44T>C | |
| ENST00000589115.6:c.*70T>C | ENSP00000466872.3:n.*70T>C | |
| ENST00000354171.12:c.*44T>C | ENSP00000346103.7:n.*44T>C | |
| ENST00000585480.1:c.338T>C | ENSP00000467900.1:p.Leu113Ser | |
| ENST00000588919.5:c.579T>C | ENSP00000464989.3:p.Leu193= | |
| ENST00000589115.5:c.*70T>C | ENSP00000466872.2:n.*70T>C | |
| ENST00000592940.2:n.1009T>C | ||
| ENST00000611653.4:c.*44T>C | ENSP00000483655.1:n.*44T>C | |
| ENST00000616066.4:c.*44T>C | ENSP00000485000.1:n.*44T>C | |
| ENST00000622390.4:c.*44T>C | ENSP00000477503.1:n.*44T>C | |
| NM_001039847.2:c.660T>C | NP_001034936.1:p.Leu220= | |
| NM_001039848.2:c.*44T>C | NP_001034937.1:n.*44T>C | |
| NM_002085.4:c.*44T>C | NP_002076.2:n.*44T>C | |
| NM_001039848.3:c.*44T>C | NP_001034937.1:n.*44T>C | |
| NM_001039847.3:c.660T>C | NP_001034936.1:p.Leu220= | |
| NM_001039848.4:c.*44T>C | NP_001034937.1:n.*44T>C | |
| NM_001367832.1:c.*44T>C | NP_001354761.1:n.*44T>C | |
| NM_002085.5:c.*44T>C MANE Select | NP_002076.2:n.*44T>C |