Linked Data
dbSNP Id:
rs554036902
ExAC:
19:1105798 A / C
gnomAD v2:
19-1105798-A-C
gnomAD v3:
19-1105799-A-C
gnomAD v4:
19-1105799-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1105799A>C , CM000681.2:g.1105799A>C | GRCh38 |
| NC_000019.9:g.1105798A>C , CM000681.1:g.1105798A>C | GRCh37 |
| NC_000019.8:g.1056798A>C | NCBI36 |
| NG_050621.1:g.6874A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.577A>C | ENSP00000473614.3:p.Ile193Leu | |
| ENST00000593032.6:c.385A>C | ENSP00000465828.4:p.Ile129Leu | |
| ENST00000706713.1:c.460A>C | ENSP00000516510.1:p.Ile154Leu | |
| ENST00000706714.1:c.385A>C | ENSP00000516511.1:p.Ile129Leu | |
| ENST00000706715.1:c.82A>C | ENSP00000516512.1:p.Ile28Leu | |
| ENST00000354171.13:c.466A>C MANE Select | ENSP00000346103.7:p.Ile156Leu | |
| ENST00000589115.6:c.466A>C | ENSP00000466872.3:p.Ile156Leu | |
| ENST00000354171.12:c.466A>C | ENSP00000346103.7:p.Ile156Leu | |
| ENST00000585480.1:c.199A>C | ENSP00000467900.1:p.Ile67Leu | |
| ENST00000587648.5:c.346A>C | ENSP00000468349.1:p.Ile116Leu | |
| ENST00000588919.5:c.385A>C | ENSP00000464989.3:p.Ile129Leu | |
| ENST00000589115.5:c.466A>C | ENSP00000466872.2:p.Ile156Leu | |
| ENST00000592940.2:n.405A>C | ||
| ENST00000593032.5:c.385A>C | ENSP00000465828.3:p.Ile129Leu | |
| ENST00000611653.4:c.385A>C | ENSP00000483655.1:p.Ile129Leu | |
| ENST00000616066.4:c.463A>C | ENSP00000485000.1:p.Ile155Leu | |
| ENST00000622390.4:c.574A>C | ENSP00000477503.1:p.Ile192Leu | |
| NM_001039847.2:c.466A>C | NP_001034936.1:p.Ile156Leu | |
| NM_001039848.2:c.577A>C | NP_001034937.1:p.Ile193Leu | |
| NM_002085.4:c.466A>C | NP_002076.2:p.Ile156Leu | |
| NM_001039848.3:c.577A>C | NP_001034937.1:p.Ile193Leu | |
| NM_001039847.3:c.466A>C | NP_001034936.1:p.Ile156Leu | |
| NM_001039848.4:c.577A>C | NP_001034937.1:p.Ile193Leu | |
| NM_001367832.1:c.385A>C | NP_001354761.1:p.Ile129Leu | |
| NM_002085.5:c.466A>C MANE Select | NP_002076.2:p.Ile156Leu |