Linked Data
dbSNP Id:
rs753590309
ExAC:
2:86088318 G / T
gnomAD v2:
2-86088318-G-T
gnomAD v4:
2-85861195-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85861195G>T , CM000664.2:g.85861195G>T | GRCh38 |
| NC_000002.11:g.86088318G>T , CM000664.1:g.86088318G>T | GRCh37 |
| NC_000002.10:g.85941829G>T | NCBI36 |
| NG_012807.1:g.32840C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306262.10:c.*48C>A | ENSP00000306247.6:n.*48C>A | |
| ENST00000377332.8:c.304C>A | ENSP00000366549.4:p.Pro102Thr | |
| ENST00000393805.6:c.220C>A | ENSP00000377394.1:p.Pro74Thr | |
| ENST00000393808.8:c.235C>A | ENSP00000377397.3:p.Pro79Thr | |
| ENST00000433665.6:c.*347C>A | ENSP00000408635.1:n.*347C>A | |
| ENST00000461199.6:n.756C>A | ||
| ENST00000461892.6:n.309C>A | ||
| ENST00000473122.6:c.304C>A | ENSP00000491314.1:p.Pro102Thr | |
| ENST00000484728.6:n.315C>A | ||
| ENST00000638178.1:c.220C>A | ENSP00000492103.1:p.Pro74Thr | |
| ENST00000638227.1:c.*347C>A | ENSP00000492602.1:n.*347C>A | |
| ENST00000638288.1:c.220C>A | ENSP00000491699.1:p.Pro74Thr | |
| ENST00000638321.1:c.201C>A | ||
| ENST00000638484.1:c.*347C>A | ENSP00000492635.1:n.*347C>A | |
| ENST00000638523.1:c.201C>A | ||
| ENST00000638542.1:c.206+2167C>A | ENSP00000492468.1:n.206+2167C>A | |
| ENST00000638572.2:c.304C>A MANE Select | ENSP00000491316.1:p.Pro102Thr | |
| ENST00000638581.1:n.330C>A | ||
| ENST00000638659.1:c.490C>A | ||
| ENST00000638678.1:c.302C>A | ||
| ENST00000638855.1:c.206+2167C>A | ENSP00000490979.1:n.206+2167C>A | |
| ENST00000638885.1:c.304C>A | ENSP00000492209.1:p.Pro102Thr | |
| ENST00000638956.1:c.304C>A | ENSP00000492097.1:p.Pro102Thr | |
| ENST00000638986.1:c.220C>A | ENSP00000491853.1:p.Pro74Thr | |
| ENST00000639119.1:c.304C>A | ENSP00000492045.1:p.Pro102Thr | |
| ENST00000639184.1:c.220C>A | ENSP00000492305.1:p.Pro74Thr | |
| ENST00000639202.1:c.187C>A | ENSP00000492710.1:p.Pro63Thr | |
| ENST00000639216.1:n.326C>A | ||
| ENST00000639305.1:c.302C>A | ||
| ENST00000639311.1:c.304C>A | ENSP00000491398.1:p.Pro102Thr | |
| ENST00000639421.1:c.491C>A | ENSP00000491029.1:n.491C>A | |
| ENST00000639432.1:c.220C>A | ENSP00000491828.1:p.Pro74Thr | |
| ENST00000639519.1:c.106C>A | ENSP00000491857.1:p.Pro36Thr | |
| ENST00000639541.1:c.304C>A | ENSP00000492280.1:p.Pro102Thr | |
| ENST00000639608.1:c.304C>A | ENSP00000492473.1:p.Pro102Thr | |
| ENST00000639690.1:c.404C>A | ENSP00000491917.1:n.404C>A | |
| ENST00000639820.1:c.*561C>A | ENSP00000491802.1:n.*561C>A | |
| ENST00000639945.1:c.304C>A | ENSP00000492866.1:p.Pro102Thr | |
| ENST00000639981.1:c.210C>A | ||
| ENST00000640024.1:c.304C>A | ENSP00000491238.1:p.Pro102Thr | |
| ENST00000640222.1:c.225C>A | ||
| ENST00000640295.1:c.491C>A | ENSP00000491027.1:n.491C>A | |
| ENST00000640314.1:c.467C>A | ENSP00000491315.1:n.467C>A | |
| ENST00000640315.1:c.280C>A | ENSP00000492089.1:p.Pro94Thr | |
| ENST00000640322.1:c.220C>A | ENSP00000491564.1:p.Pro74Thr | |
| ENST00000640378.1:c.37C>A | ENSP00000492030.1:p.Pro13Thr | |
| ENST00000640418.1:c.361C>A | ENSP00000492098.1:p.Pro121Thr | |
| ENST00000640425.1:c.287C>A | ||
| ENST00000640572.1:c.287C>A | ||
| ENST00000640594.1:c.*347C>A | ENSP00000491356.1:n.*347C>A | |
| ENST00000640763.1:c.23C>A | ||
| ENST00000640835.1:c.186C>A | ||
| ENST00000640849.1:c.199C>A | ENSP00000491701.1:p.Pro67Thr | |
| ENST00000640903.1:c.390C>A | ||
| ENST00000640982.1:c.220C>A | ENSP00000492299.1:p.Pro74Thr | |
| ENST00000640992.1:c.220C>A | ENSP00000492753.1:p.Pro74Thr | |
| ENST00000306262.9:c.304C>A | ENSP00000306247.5:p.Pro102Thr | |
| ENST00000377332.7:c.304C>A | ENSP00000366549.3:p.Pro102Thr | |
| ENST00000393805.5:c.220C>A | ENSP00000377394.1:p.Pro74Thr | |
| ENST00000393808.7:c.235C>A | ENSP00000377397.3:p.Pro79Thr | |
| ENST00000433665.5:c.*347C>A | ENSP00000408635.1:n.*347C>A | |
| ENST00000455892.1:c.220C>A | ENSP00000401375.1:p.Pro74Thr | |
| ENST00000461199.5:n.309C>A | ||
| ENST00000461892.5:n.307C>A | ||
| ENST00000473122.5:n.276C>A | ||
| ENST00000484728.5:n.310C>A | ||
| NM_001042437.1:c.235C>A | NP_001035902.1:p.Pro79Thr | |
| NM_003896.3:c.304C>A | NP_003887.3:p.Pro102Thr | |
| XM_005264630.3:c.304C>A | XP_005264687.1:p.Pro102Thr | |
| XM_011533143.1:c.-258C>A | XP_011531445.1:n.-258C>A | |
| XR_939734.1:n.389C>A | ||
| XR_939735.1:n.389C>A | ||
| XR_939736.1:n.389C>A | ||
| NM_001354223.1:c.-258C>A | NP_001341152.1:n.-258C>A | |
| NM_001354224.1:c.-321C>A | NP_001341153.1:n.-321C>A | |
| NM_001354226.1:c.-258C>A | NP_001341155.1:n.-258C>A | |
| NM_001354227.1:c.220C>A | NP_001341156.1:p.Pro74Thr | |
| NM_001354229.1:c.220C>A | NP_001341158.1:p.Pro74Thr | |
| NM_001354233.1:c.-698C>A | NP_001341162.1:n.-698C>A | |
| NM_001354234.1:c.-662C>A | NP_001341163.1:n.-662C>A | |
| NM_001354238.1:c.220C>A | NP_001341167.1:p.Pro74Thr | |
| NM_001363847.1:c.304C>A | NP_001350776.1:p.Pro102Thr | |
| XM_017005202.2:c.220C>A | XP_016860691.1:p.Pro74Thr | |
| XM_017005203.2:c.-761C>A | XP_016860692.1:n.-761C>A | |
| XM_017005204.2:c.-761C>A | XP_016860693.1:n.-761C>A | |
| XM_017005205.2:c.-753C>A | XP_016860694.1:n.-753C>A | |
| XM_017005206.2:c.-662C>A | XP_016860695.1:n.-662C>A | |
| XM_017005208.2:c.-662C>A | XP_016860697.1:n.-662C>A | |
| XM_017005209.1:c.-313C>A | XP_016860698.1:n.-313C>A | |
| XM_017005212.2:c.-222C>A | XP_016860701.1:n.-222C>A | |
| XM_017005214.2:c.-258C>A | XP_016860703.1:n.-258C>A | |
| XR_001739019.1:n.389C>A | ||
| XR_001739020.1:n.389C>A | ||
| XR_001739021.1:n.389C>A | ||
| NM_003896.4:c.304C>A MANE Select | NP_003887.3:p.Pro102Thr | |
| NM_001042437.2:c.235C>A | NP_001035902.1:p.Pro79Thr | |
| NM_001354223.2:c.-258C>A | NP_001341152.1:n.-258C>A | |
| NM_001354224.2:c.-321C>A | NP_001341153.1:n.-321C>A | |
| NM_001354226.2:c.-258C>A | NP_001341155.1:n.-258C>A | |
| NM_001354227.2:c.220C>A | NP_001341156.1:p.Pro74Thr | |
| NM_001354229.2:c.220C>A | NP_001341158.1:p.Pro74Thr | |
| NM_001354233.2:c.-698C>A | NP_001341162.1:n.-698C>A |