Linked Data
ClinVar Variation Id:
741624
dbSNP Id:
rs769250904
ExAC:
19:1105734 C / T
gnomAD v2:
19-1105734-C-T
gnomAD v3:
19-1105735-C-T
gnomAD v4:
19-1105735-C-T
COSMIC:
COSM2813436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1105735C>T , CM000681.2:g.1105735C>T | GRCh38 |
| NC_000019.9:g.1105734C>T , CM000681.1:g.1105734C>T | GRCh37 |
| NC_000019.8:g.1056734C>T | NCBI36 |
| NG_050621.1:g.6810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.513C>T | ENSP00000473614.3:p.Cys171= | |
| ENST00000593032.6:c.321C>T | ENSP00000465828.4:p.Cys107= | |
| ENST00000706713.1:c.396C>T | ENSP00000516510.1:p.Cys132= | |
| ENST00000706714.1:c.321C>T | ENSP00000516511.1:p.Cys107= | |
| ENST00000706715.1:c.18C>T | ENSP00000516512.1:p.Cys6= | |
| ENST00000354171.13:c.402C>T MANE Select | ENSP00000346103.7:p.Cys134= | |
| ENST00000589115.6:c.402C>T | ENSP00000466872.3:p.Cys134= | |
| ENST00000354171.12:c.402C>T | ENSP00000346103.7:p.Cys134= | |
| ENST00000585362.6:c.513C>T | ENSP00000473614.2:p.Cys171= | |
| ENST00000585480.1:c.135C>T | ENSP00000467900.1:p.Cys45= | |
| ENST00000587648.5:c.282C>T | ENSP00000468349.1:p.Cys94= | |
| ENST00000588919.5:c.321C>T | ENSP00000464989.3:p.Cys107= | |
| ENST00000589115.5:c.402C>T | ENSP00000466872.2:p.Cys134= | |
| ENST00000592940.2:n.341C>T | ||
| ENST00000593032.5:c.321C>T | ENSP00000465828.3:p.Cys107= | |
| ENST00000611653.4:c.321C>T | ENSP00000483655.1:p.Cys107= | |
| ENST00000616066.4:c.399C>T | ENSP00000485000.1:p.Cys133= | |
| ENST00000622390.4:c.510C>T | ENSP00000477503.1:p.Cys170= | |
| NM_001039847.2:c.402C>T | NP_001034936.1:p.Cys134= | |
| NM_001039848.2:c.513C>T | NP_001034937.1:p.Cys171= | |
| NM_002085.4:c.402C>T | NP_002076.2:p.Cys134= | |
| NM_001039848.3:c.513C>T | NP_001034937.1:p.Cys171= | |
| NM_001039847.3:c.402C>T | NP_001034936.1:p.Cys134= | |
| NM_001039848.4:c.513C>T | NP_001034937.1:p.Cys171= | |
| NM_001367832.1:c.321C>T | NP_001354761.1:p.Cys107= | |
| NM_002085.5:c.402C>T MANE Select | NP_002076.2:p.Cys134= |