Linked Data
ClinVar Variation Id:
1159696
ClinVar RCV Id:
RCV001503508
dbSNP Id:
rs1458136570
gnomAD v4:
3-184138033-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138033T>C , CM000665.2:g.184138033T>C | GRCh38 |
| NC_000003.11:g.183855821T>C , CM000665.1:g.183855821T>C | GRCh37 |
| NC_000003.10:g.185338515T>C | NCBI36 |
| NG_015826.1:g.8012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.665T>C | ||
| ENST00000468748.7:n.625T>C | ||
| ENST00000484154.2:n.1263T>C | ||
| ENST00000491008.6:n.1390T>C | ||
| ENST00000492226.2:n.639T>C | ||
| ENST00000492773.6:c.374T>C | ||
| ENST00000647636.1:c.642T>C | ENSP00000497505.1:p.His214= | |
| ENST00000647909.1:c.666T>C | ENSP00000498164.1:p.His222= | |
| ENST00000648145.1:c.410T>C | ||
| ENST00000648189.1:c.392T>C | ||
| ENST00000648256.1:c.591T>C | ENSP00000497356.1:p.His197= | |
| ENST00000648314.1:c.642T>C | ENSP00000496920.1:p.His214= | |
| ENST00000648599.1:c.642T>C | ENSP00000497159.1:p.His214= | |
| ENST00000648630.1:c.636T>C | ENSP00000497887.1:p.His212= | |
| ENST00000648682.1:c.642T>C | ENSP00000498185.1:p.His214= | |
| ENST00000648882.1:c.*468T>C | ENSP00000497603.1:n.*468T>C | |
| ENST00000648890.1:c.642T>C | ENSP00000497503.1:p.His214= | |
| ENST00000648915.2:c.642T>C MANE Select | ENSP00000497160.1:p.His214= | |
| ENST00000649545.1:c.376T>C | ||
| ENST00000649688.1:c.642T>C | ENSP00000497097.1:p.His214= | |
| ENST00000649814.1:n.691T>C | ||
| ENST00000650270.1:c.509T>C | ||
| ENST00000273783.7:c.642T>C | ENSP00000273783.3:p.His214= | |
| ENST00000432982.5:c.245+1358T>C | ||
| ENST00000444495.1:c.642T>C | ENSP00000409142.1:p.His214= | |
| ENST00000468748.5:n.95T>C | ||
| ENST00000481054.5:n.643T>C | ||
| ENST00000491008.5:n.606T>C | ||
| ENST00000491144.5:n.1082T>C | ||
| ENST00000498831.1:n.597T>C | ||
| NM_003907.2:c.642T>C | NP_003898.2:p.His214= | |
| XR_924208.1:n.1593T>C | ||
| NM_003907.3:c.642T>C MANE Select | NP_003898.2:p.His214= | |
| XM_011513266.3:c.-260T>C | XP_011511568.1:n.-260T>C | |
| XR_001740352.2:n.1005T>C | ||
| XR_001740353.2:n.1005T>C | ||
| XR_924208.2:n.1005T>C |