Linked Data
ClinVar Variation Id:
380505
dbSNP Id:
rs74061802
ExAC:
14:74754601 T / G
gnomAD v2:
14-74754601-T-G
gnomAD v3:
14-74287898-T-G
gnomAD v4:
14-74287898-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74287898T>G , CM000676.2:g.74287898T>G | GRCh38 |
| NC_000014.8:g.74754601T>G , CM000676.1:g.74754601T>G | GRCh37 |
| NC_000014.7:g.73824354T>G | NCBI36 |
| NG_032875.1:g.20167A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.1560-12A>C MANE Select | ENSP00000349396.4:n.1560-12A>C | |
| ENST00000356924.8:c.1560-12A>C | ENSP00000349396.4:n.1560-12A>C | |
| ENST00000465085.2:n.744A>C | ||
| ENST00000474270.1:c.611-12A>C | ||
| ENST00000481348.5:c.451-12A>C | ||
| ENST00000481935.5:c.*1261-12A>C | ENSP00000436782.1:n.*1261-12A>C | |
| ENST00000484380.2:n.1748-12A>C | ||
| ENST00000553486.5:c.*1261-12A>C | ENSP00000450611.1:n.*1261-12A>C | |
| ENST00000553745.5:c.*1270-12A>C | ENSP00000451778.1:n.*1270-12A>C | |
| ENST00000555904.1:c.107-12A>C | ||
| ENST00000556517.1:c.451-12A>C | ||
| NM_005050.3:c.1560-12A>C | NP_005041.1:n.1560-12A>C | |
| NR_003256.2:n.1584-12A>C | ||
| XM_005267939.2:c.1146-12A>C | XP_005267996.1:n.1146-12A>C | |
| XM_005267940.2:c.1146-12A>C | XP_005267997.1:n.1146-12A>C | |
| XM_005267941.3:c.1146-12A>C | XP_005267998.1:n.1146-12A>C | |
| XM_005267942.3:c.1146-12A>C | XP_005267999.1:n.1146-12A>C | |
| XM_005267946.2:c.1083-12A>C | XP_005268003.1:n.1083-12A>C | |
| XM_005267949.2:c.1083-12A>C | XP_005268006.1:n.1083-12A>C | |
| XM_005267953.2:c.771-12A>C | XP_005268010.1:n.771-12A>C | |
| XM_006720223.1:c.1299-12A>C | XP_006720286.1:n.1299-12A>C | |
| XM_011537041.1:c.1287-12A>C | XP_011535343.1:n.1287-12A>C | |
| XM_011537042.1:c.1083-12A>C | XP_011535344.1:n.1083-12A>C | |
| XM_011537043.1:c.771-12A>C | XP_011535345.1:n.771-12A>C | |
| XR_245710.2:n.1553-12A>C | ||
| NM_001353591.1:c.1434-12A>C | NP_001340520.1:n.1434-12A>C | |
| NM_001353592.1:c.1434-12A>C | NP_001340521.1:n.1434-12A>C | |
| NM_001353593.1:c.1299-12A>C | NP_001340522.1:n.1299-12A>C | |
| NM_001353594.1:c.1248-12A>C | NP_001340523.1:n.1248-12A>C | |
| NM_001353595.1:c.1146-12A>C | NP_001340524.1:n.1146-12A>C | |
| NM_001353596.1:c.1146-12A>C | NP_001340525.1:n.1146-12A>C | |
| NM_001353597.1:c.1095-12A>C | NP_001340526.1:n.1095-12A>C | |
| NM_001353598.1:c.1083-12A>C | NP_001340527.1:n.1083-12A>C | |
| NM_001353599.1:c.1083-12A>C | NP_001340528.1:n.1083-12A>C | |
| NM_001353600.1:c.1083-12A>C | NP_001340529.1:n.1083-12A>C | |
| NM_001353601.1:c.1083-12A>C | NP_001340530.1:n.1083-12A>C | |
| NM_001353602.1:c.771-12A>C | NP_001340531.1:n.771-12A>C | |
| NM_001353603.1:c.771-12A>C | NP_001340532.1:n.771-12A>C | |
| NM_001353604.1:c.771-12A>C | NP_001340533.1:n.771-12A>C | |
| NM_001353605.1:c.771-12A>C | NP_001340534.1:n.771-12A>C | |
| NM_001353606.1:c.771-12A>C | NP_001340535.1:n.771-12A>C | |
| NM_001353607.1:c.771-12A>C | NP_001340536.1:n.771-12A>C | |
| NM_001353608.1:c.771-12A>C | NP_001340537.1:n.771-12A>C | |
| NM_001353609.1:c.771-12A>C | NP_001340538.1:n.771-12A>C | |
| NM_001353610.1:c.827-12A>C | NP_001340539.1:n.827-12A>C | |
| NM_020324.2:c.1083-12A>C | NP_064720.1:n.1083-12A>C | |
| NM_020325.2:c.1560-12A>C | NP_064730.1:n.1560-12A>C | |
| NR_148466.1:n.1520-12A>C | ||
| NR_148467.1:n.1301-12A>C | ||
| NR_148468.1:n.1278-12A>C | ||
| NR_148469.1:n.1525-12A>C | ||
| NR_148470.1:n.1487-12A>C | ||
| NR_148471.1:n.1525-12A>C | ||
| NR_148472.1:n.1574-12A>C | ||
| NR_148473.1:n.1501-12A>C | ||
| NR_148474.1:n.1620-12A>C | ||
| XM_005267940.3:c.1146-12A>C | XP_005267997.1:n.1146-12A>C | |
| XM_005267942.4:c.1146-12A>C | XP_005267999.1:n.1146-12A>C | |
| XM_011537041.2:c.1287-12A>C | XP_011535343.1:n.1287-12A>C | |
| XM_017021531.2:c.1616-12A>C | XP_016877020.1:n.1616-12A>C | |
| XM_017021534.1:c.948-12A>C | XP_016877023.1:n.948-12A>C | |
| XM_017021539.1:c.771-12A>C | XP_016877028.1:n.771-12A>C | |
| XM_017021540.2:c.771-12A>C | XP_016877029.1:n.771-12A>C | |
| XM_017021541.2:c.771-12A>C | XP_016877030.1:n.771-12A>C | |
| XM_017021542.1:c.771-12A>C | XP_016877031.1:n.771-12A>C | |
| XM_024449675.1:c.1173-12A>C | XP_024305443.1:n.1173-12A>C | |
| XM_024449676.1:c.1083-12A>C | XP_024305444.1:n.1083-12A>C | |
| XM_024449677.1:c.1083-12A>C | XP_024305445.1:n.1083-12A>C | |
| XM_024449678.1:c.771-12A>C | XP_024305446.1:n.771-12A>C | |
| XM_024449679.1:c.771-12A>C | XP_024305447.1:n.771-12A>C | |
| XR_001750476.2:n.1691-12A>C | ||
| XR_001750478.2:n.2063-12A>C | ||
| XR_001750480.2:n.1599-12A>C | ||
| XR_001750482.1:n.1626-12A>C | ||
| XR_001750484.1:n.1943-12A>C | ||
| XR_002957565.1:n.1585-12A>C | ||
| XR_245710.4:n.1543-12A>C | ||
| XR_943500.3:n.2155-12A>C | ||
| NM_005050.4:c.1560-12A>C MANE Select | NP_005041.1:n.1560-12A>C | |
| NM_001353591.2:c.1434-12A>C | NP_001340520.1:n.1434-12A>C | |
| NM_001353592.2:c.1434-12A>C | NP_001340521.1:n.1434-12A>C | |
| NM_001353593.2:c.1299-12A>C | NP_001340522.1:n.1299-12A>C | |
| NM_001353594.2:c.1248-12A>C | NP_001340523.1:n.1248-12A>C | |
| NM_001353595.2:c.1146-12A>C | NP_001340524.1:n.1146-12A>C | |
| NM_001353596.2:c.1146-12A>C | NP_001340525.1:n.1146-12A>C | |
| NM_001353597.2:c.1095-12A>C | NP_001340526.1:n.1095-12A>C | |
| NM_001353598.2:c.1083-12A>C | NP_001340527.1:n.1083-12A>C | |
| NM_001353599.2:c.1083-12A>C | NP_001340528.1:n.1083-12A>C | |
| NM_001353600.2:c.1083-12A>C | NP_001340529.1:n.1083-12A>C | |
| NM_001353601.2:c.1083-12A>C | NP_001340530.1:n.1083-12A>C | |
| NM_001353602.2:c.771-12A>C | NP_001340531.1:n.771-12A>C | |
| NM_001353603.2:c.771-12A>C | NP_001340532.1:n.771-12A>C | |
| NM_001353604.2:c.771-12A>C | NP_001340533.1:n.771-12A>C | |
| NM_001353605.2:c.771-12A>C | NP_001340534.1:n.771-12A>C | |
| NM_001353606.2:c.771-12A>C | NP_001340535.1:n.771-12A>C | |
| NM_001353607.2:c.771-12A>C | NP_001340536.1:n.771-12A>C | |
| NM_001353608.2:c.771-12A>C | NP_001340537.1:n.771-12A>C | |
| NM_001353609.2:c.771-12A>C | NP_001340538.1:n.771-12A>C | |
| NM_001353610.2:c.827-12A>C | NP_001340539.1:n.827-12A>C | |
| NM_020324.3:c.1083-12A>C | NP_064720.1:n.1083-12A>C | |
| NM_020325.3:c.1560-12A>C | NP_064730.1:n.1560-12A>C | |
| NR_003256.3:n.1454-12A>C | ||
| NR_148466.2:n.1390-12A>C | ||
| NR_148467.2:n.1171-12A>C | ||
| NR_148468.2:n.1148-12A>C | ||
| NR_148469.2:n.1395-12A>C | ||
| NR_148470.2:n.1357-12A>C | ||
| NR_148471.2:n.1395-12A>C | ||
| NR_148472.2:n.1444-12A>C | ||
| NR_148473.2:n.1371-12A>C | ||
| NR_148474.2:n.1490-12A>C |