Linked Data
ClinVar Variation Id:
1545841
ClinVar RCV Id:
RCV002168218
dbSNP Id:
rs147109185
gnomAD v2:
16-1412245-T-C
gnomAD v3:
16-1362244-T-C
gnomAD v4:
16-1362244-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362244T>C , CM000678.2:g.1362244T>C | GRCh38 |
| NC_000016.9:g.1412245T>C , CM000678.1:g.1412245T>C | GRCh37 |
| NC_000016.8:g.1352246T>C | NCBI36 |
| NG_016985.1:g.15346T>C | |
| NG_033129.1:g.57461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.549T>C | ||
| ENST00000529110.2:c.534T>C | ENSP00000435349.2:p.His178= | |
| ENST00000529957.6:n.508T>C | ||
| ENST00000683366.1:c.*182T>C | ENSP00000507283.1:n.*182T>C | |
| ENST00000683887.1:c.498T>C | ENSP00000506886.1:p.His166= | |
| ENST00000684100.1:n.444T>C | ||
| ENST00000684126.1:n.508T>C | ||
| ENST00000684688.1:n.1075T>C | ||
| ENST00000204679.9:c.450T>C MANE Select | ENSP00000204679.4:p.His150= | |
| ENST00000204679.8:c.450T>C | ENSP00000204679.4:p.His150= | |
| ENST00000527076.1:n.1466T>C | ||
| ENST00000527168.5:n.486T>C | ||
| ENST00000529110.1:c.517T>C | ||
| ENST00000529957.5:n.549T>C | ||
| NM_032520.4:c.450T>C | NP_115909.1:p.His150= | |
| XM_017023782.1:c.498T>C | XP_016879271.1:p.His166= | |
| XM_017023783.1:c.90T>C | XP_016879272.1:p.His30= | |
| NM_032520.5:c.450T>C MANE Select | NP_115909.1:p.His150= |