Linked Data
ClinVar Variation Id:
388278
ClinVar RCV Id:
RCV000435750
dbSNP Id:
rs1057523050
gnomAD v2:
14-74753159-G-A
gnomAD v4:
14-74286456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74286456G>A , CM000676.2:g.74286456G>A | GRCh38 |
| NC_000014.8:g.74753159G>A , CM000676.1:g.74753159G>A | GRCh37 |
| NC_000014.7:g.73822912G>A | NCBI36 |
| NG_032875.1:g.21609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.*5C>T MANE Select | ENSP00000349396.4:n.*5C>T | |
| ENST00000356924.8:c.*5C>T | ENSP00000349396.4:n.*5C>T | |
| ENST00000481348.5:c.717C>T | ||
| ENST00000481935.5:c.*1698C>T | ENSP00000436782.1:n.*1698C>T | |
| ENST00000553486.5:c.*1527C>T | ENSP00000450611.1:n.*1527C>T | |
| ENST00000555904.1:c.410C>T | ||
| ENST00000556517.1:c.888C>T | ||
| NM_005050.3:c.*5C>T | NP_005041.1:n.*5C>T | |
| NR_003256.2:n.1850C>T | ||
| XM_005267939.2:c.*5C>T | XP_005267996.1:n.*5C>T | |
| XM_005267940.2:c.*5C>T | XP_005267997.1:n.*5C>T | |
| XM_005267941.3:c.*5C>T | XP_005267998.1:n.*5C>T | |
| XM_005267942.3:c.*5C>T | XP_005267999.1:n.*5C>T | |
| XM_005267946.2:c.*5C>T | XP_005268003.1:n.*5C>T | |
| XM_005267949.2:c.*5C>T | XP_005268006.1:n.*5C>T | |
| XM_005267953.2:c.*5C>T | XP_005268010.1:n.*5C>T | |
| XM_006720223.1:c.*5C>T | XP_006720286.1:n.*5C>T | |
| XM_011537041.1:c.*5C>T | XP_011535343.1:n.*5C>T | |
| XM_011537042.1:c.*5C>T | XP_011535344.1:n.*5C>T | |
| XM_011537043.1:c.*5C>T | XP_011535345.1:n.*5C>T | |
| XR_245710.2:n.1819C>T | ||
| NM_001353591.1:c.*5C>T | NP_001340520.1:n.*5C>T | |
| NM_001353592.1:c.*218C>T | NP_001340521.1:n.*218C>T | |
| NM_001353593.1:c.*5C>T | NP_001340522.1:n.*5C>T | |
| NM_001353594.1:c.*218C>T | NP_001340523.1:n.*218C>T | |
| NM_001353595.1:c.*5C>T | NP_001340524.1:n.*5C>T | |
| NM_001353596.1:c.*5C>T | NP_001340525.1:n.*5C>T | |
| NM_001353597.1:c.*5C>T | NP_001340526.1:n.*5C>T | |
| NM_001353598.1:c.*5C>T | NP_001340527.1:n.*5C>T | |
| NM_001353599.1:c.*218C>T | NP_001340528.1:n.*218C>T | |
| NM_001353600.1:c.*218C>T | NP_001340529.1:n.*218C>T | |
| NM_001353601.1:c.*218C>T | NP_001340530.1:n.*218C>T | |
| NM_001353602.1:c.*5C>T | NP_001340531.1:n.*5C>T | |
| NM_001353603.1:c.*5C>T | NP_001340532.1:n.*5C>T | |
| NM_001353604.1:c.*5C>T | NP_001340533.1:n.*5C>T | |
| NM_001353605.1:c.*5C>T | NP_001340534.1:n.*5C>T | |
| NM_001353606.1:c.*218C>T | NP_001340535.1:n.*218C>T | |
| NM_001353607.1:c.*218C>T | NP_001340536.1:n.*218C>T | |
| NM_001353608.1:c.*218C>T | NP_001340537.1:n.*218C>T | |
| NM_001353609.1:c.*218C>T | NP_001340538.1:n.*218C>T | |
| NM_001353610.1:c.*334C>T | NP_001340539.1:n.*334C>T | |
| NM_020324.2:c.*5C>T | NP_064720.1:n.*5C>T | |
| NM_020325.2:c.*218C>T | NP_064730.1:n.*218C>T | |
| NR_148466.1:n.1786C>T | ||
| NR_148467.1:n.1567C>T | ||
| NR_148468.1:n.1544C>T | ||
| NR_148469.1:n.1791C>T | ||
| NR_148470.1:n.1924C>T | ||
| NR_148471.1:n.1962C>T | ||
| NR_148472.1:n.1840C>T | ||
| NR_148473.1:n.1767C>T | ||
| NR_148474.1:n.2057C>T | ||
| XM_005267940.3:c.*5C>T | XP_005267997.1:n.*5C>T | |
| XM_005267942.4:c.*5C>T | XP_005267999.1:n.*5C>T | |
| XM_011537041.2:c.*5C>T | XP_011535343.1:n.*5C>T | |
| XM_017021531.2:c.*334C>T | XP_016877020.1:n.*334C>T | |
| XM_017021534.1:c.*5C>T | XP_016877023.1:n.*5C>T | |
| XM_017021539.1:c.*5C>T | XP_016877028.1:n.*5C>T | |
| XM_017021540.2:c.*5C>T | XP_016877029.1:n.*5C>T | |
| XM_017021541.2:c.*5C>T | XP_016877030.1:n.*5C>T | |
| XM_017021542.1:c.*5C>T | XP_016877031.1:n.*5C>T | |
| XM_024449675.1:c.*5C>T | XP_024305443.1:n.*5C>T | |
| XM_024449676.1:c.*5C>T | XP_024305444.1:n.*5C>T | |
| XM_024449677.1:c.*5C>T | XP_024305445.1:n.*5C>T | |
| XM_024449678.1:c.*5C>T | XP_024305446.1:n.*5C>T | |
| XM_024449679.1:c.*5C>T | XP_024305447.1:n.*5C>T | |
| XR_001750476.2:n.1957C>T | ||
| XR_001750478.2:n.2329C>T | ||
| XR_001750480.2:n.1865C>T | ||
| XR_001750482.1:n.1892C>T | ||
| XR_001750484.1:n.2209C>T | ||
| XR_002957565.1:n.1851C>T | ||
| XR_245710.4:n.1809C>T | ||
| XR_943500.3:n.2421C>T | ||
| NM_005050.4:c.*5C>T MANE Select | NP_005041.1:n.*5C>T | |
| NM_001353591.2:c.*5C>T | NP_001340520.1:n.*5C>T | |
| NM_001353592.2:c.*218C>T | NP_001340521.1:n.*218C>T | |
| NM_001353593.2:c.*5C>T | NP_001340522.1:n.*5C>T | |
| NM_001353594.2:c.*218C>T | NP_001340523.1:n.*218C>T | |
| NM_001353595.2:c.*5C>T | NP_001340524.1:n.*5C>T | |
| NM_001353596.2:c.*5C>T | NP_001340525.1:n.*5C>T | |
| NM_001353597.2:c.*5C>T | NP_001340526.1:n.*5C>T | |
| NM_001353598.2:c.*5C>T | NP_001340527.1:n.*5C>T | |
| NM_001353599.2:c.*218C>T | NP_001340528.1:n.*218C>T | |
| NM_001353600.2:c.*218C>T | NP_001340529.1:n.*218C>T | |
| NM_001353601.2:c.*218C>T | NP_001340530.1:n.*218C>T | |
| NM_001353602.2:c.*5C>T | NP_001340531.1:n.*5C>T | |
| NM_001353603.2:c.*5C>T | NP_001340532.1:n.*5C>T | |
| NM_001353604.2:c.*5C>T | NP_001340533.1:n.*5C>T | |
| NM_001353605.2:c.*5C>T | NP_001340534.1:n.*5C>T | |
| NM_001353606.2:c.*218C>T | NP_001340535.1:n.*218C>T | |
| NM_001353607.2:c.*218C>T | NP_001340536.1:n.*218C>T | |
| NM_001353608.2:c.*218C>T | NP_001340537.1:n.*218C>T | |
| NM_001353609.2:c.*218C>T | NP_001340538.1:n.*218C>T | |
| NM_001353610.2:c.*334C>T | NP_001340539.1:n.*334C>T | |
| NM_020324.3:c.*5C>T | NP_064720.1:n.*5C>T | |
| NM_020325.3:c.*218C>T | NP_064730.1:n.*218C>T | |
| NR_003256.3:n.1720C>T | ||
| NR_148466.2:n.1656C>T | ||
| NR_148467.2:n.1437C>T | ||
| NR_148468.2:n.1414C>T | ||
| NR_148469.2:n.1661C>T | ||
| NR_148470.2:n.1794C>T | ||
| NR_148471.2:n.1832C>T | ||
| NR_148472.2:n.1710C>T | ||
| NR_148473.2:n.1637C>T | ||
| NR_148474.2:n.1927C>T |