Linked Data
dbSNP Id:
rs1787200
gnomAD v2:
18-46587654-G-A
gnomAD v3:
18-49061284-G-A
gnomAD v4:
18-49061284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49061284G>A , CM000680.2:g.49061284G>A | GRCh38 |
| NC_000018.9:g.46587654G>A , CM000680.1:g.46587654G>A | GRCh37 |
| NC_000018.8:g.44841652G>A | NCBI36 |
| NG_009239.1:g.404426C>T | |
| NG_009239.2:g.404450C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675505.1:c.2026-17080C>T MANE Select | ENSP00000501694.1:n.2026-17080C>T | |
| ENST00000269445.10:c.1861-17080C>T | ENSP00000269445.6:n.1861-17080C>T | |
| ENST00000442713.6:c.1291-17080C>T | ENSP00000395942.2:n.1291-17080C>T | |
| ENST00000577734.1:c.188-17080C>T | ||
| NM_017653.3:c.1861-17080C>T | NP_060123.3:n.1861-17080C>T | |
| XM_006722488.2:c.1956-17080C>T | XP_006722551.1:n.1956-17080C>T | |
| XM_011526036.1:c.1979-17080C>T | XP_011524338.1:n.1979-17080C>T | |
| XM_011526037.1:c.1976-17080C>T | XP_011524339.1:n.1976-17080C>T | |
| XM_011526038.1:c.1976-17080C>T | XP_011524340.1:n.1976-17080C>T | |
| XM_011526040.1:c.1811-17080C>T | XP_011524342.1:n.1811-17080C>T | |
| XM_011526041.1:c.1796-17080C>T | XP_011524343.1:n.1796-17080C>T | |
| NM_001353210.1:c.1858-17080C>T | NP_001340139.1:n.1858-17080C>T | |
| NM_001353211.1:c.1858-17080C>T | NP_001340140.1:n.1858-17080C>T | |
| NM_001353212.1:c.2023-17080C>T | NP_001340141.1:n.2023-17080C>T | |
| NM_001353213.1:c.2023-17080C>T | NP_001340142.1:n.2023-17080C>T | |
| NM_001353214.1:c.2026-17080C>T | NP_001340143.1:n.2026-17080C>T | |
| NM_001353215.1:c.1843-17080C>T | NP_001340144.1:n.1843-17080C>T | |
| NM_001353216.1:c.1678-17080C>T | NP_001340145.1:n.1678-17080C>T | |
| NM_017653.4:c.1861-17080C>T | NP_060123.3:n.1861-17080C>T | |
| XM_006722488.3:c.1956-17080C>T | XP_006722551.1:n.1956-17080C>T | |
| XM_011526036.2:c.1979-17080C>T | XP_011524338.1:n.1979-17080C>T | |
| XM_011526038.2:c.1976-17080C>T | XP_011524340.1:n.1976-17080C>T | |
| XM_011526041.2:c.1796-17080C>T | XP_011524343.1:n.1796-17080C>T | |
| XM_017025795.1:c.1973-17080C>T | XP_016881284.1:n.1973-17080C>T | |
| XM_017025796.2:c.1799-17080C>T | XP_016881285.1:n.1799-17080C>T | |
| XM_017025800.2:c.1675-17080C>T | XP_016881289.1:n.1675-17080C>T | |
| XM_017025801.1:c.1672-17080C>T | XP_016881290.1:n.1672-17080C>T | |
| XR_002958177.1:n.2326-17080C>T | ||
| NM_001353210.3:c.1858-17080C>T | NP_001340139.1:n.1858-17080C>T | |
| NM_001353211.3:c.1858-17080C>T | NP_001340140.1:n.1858-17080C>T | |
| NM_001353212.3:c.2023-17080C>T | NP_001340141.1:n.2023-17080C>T | |
| NM_001353213.3:c.2023-17080C>T | NP_001340142.1:n.2023-17080C>T | |
| NM_001353214.3:c.2026-17080C>T MANE Select | NP_001340143.1:n.2026-17080C>T | |
| NM_001353215.3:c.1843-17080C>T | NP_001340144.1:n.1843-17080C>T | |
| NM_001353216.3:c.1678-17080C>T | NP_001340145.1:n.1678-17080C>T | |
| NM_001374428.1:c.2026-17080C>T | NP_001361357.1:n.2026-17080C>T | |
| NM_001374429.1:c.2020-17080C>T | NP_001361358.1:n.2020-17080C>T | |
| NM_001374430.1:c.2121-17080C>T | NP_001361359.1:n.2121-17080C>T | |
| NM_001374431.1:c.1912-17080C>T | NP_001361360.1:n.1912-17080C>T | |
| NM_001374432.1:c.1900-17080C>T | NP_001361361.1:n.1900-17080C>T | |
| NM_001374433.1:c.1956-17080C>T | NP_001361362.1:n.1956-17080C>T | |
| NM_001374434.1:c.1747-17080C>T | NP_001361363.1:n.1747-17080C>T | |
| NM_001374435.1:c.1744-17080C>T | NP_001361364.1:n.1744-17080C>T | |
| NM_001374436.1:c.1735-17080C>T | NP_001361365.1:n.1735-17080C>T | |
| NM_001374437.1:c.1678-17080C>T | NP_001361366.1:n.1678-17080C>T | |
| NM_001374438.1:c.1675-17080C>T | NP_001361367.1:n.1675-17080C>T | |
| NM_001374439.1:c.1672-17080C>T | NP_001361368.1:n.1672-17080C>T | |
| NM_001374440.1:c.1633-17080C>T | NP_001361369.1:n.1633-17080C>T | |
| NM_001374441.1:c.1456-17080C>T | NP_001361370.1:n.1456-17080C>T | |
| NM_001374442.1:c.1291-17080C>T | NP_001361371.1:n.1291-17080C>T | |
| NM_001374443.1:c.1288-17080C>T | NP_001361372.1:n.1288-17080C>T | |
| NM_001374444.1:c.1108-17080C>T | NP_001361373.1:n.1108-17080C>T | |
| NM_017653.6:c.1861-17080C>T | NP_060123.3:n.1861-17080C>T |