UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs941853
gnomAD v2:
10-116199175-G-A
gnomAD v3:
10-114439416-G-A
gnomAD v4:
10-114439416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114439416G>A , CM000672.2:g.114439416G>A | GRCh38 |
| NC_000010.10:g.116199175G>A , CM000672.1:g.116199175G>A | GRCh37 |
| NC_000010.9:g.116189165G>A | NCBI36 |
| NG_029872.1:g.250240C>T | |
| NG_029872.2:g.387228C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651023.2:c.1699-166C>T | ENSP00000499023.2:n.1699-166C>T | |
| ENST00000707119.1:c.1594-166C>T | ENSP00000516747.1:n.1594-166C>T | |
| ENST00000533213.7:c.2068-166C>T MANE Select | ENSP00000433629.3:n.2068-166C>T | |
| ENST00000649363.1:c.2236-166C>T | ENSP00000497150.1:n.2236-166C>T | |
| ENST00000277895.9:c.2068-166C>T | ENSP00000277895.5:n.2068-166C>T | |
| ENST00000369252.8:c.1964-153C>T | ENSP00000358256.5:n.1964-153C>T | |
| ENST00000369253.6:c.937-166C>T | ENSP00000358257.2:n.937-166C>T | |
| ENST00000369256.6:c.1978-166C>T | ENSP00000358260.3:n.1978-166C>T | |
| ENST00000369266.7:c.929-153C>T | ENSP00000358270.4:n.929-153C>T | |
| ENST00000392952.7:c.1099-166C>T | ENSP00000376679.3:n.1099-166C>T | |
| ENST00000392955.7:c.1888-166C>T | ENSP00000376682.4:n.1888-166C>T | |
| ENST00000533213.6:c.1880-153C>T | ENSP00000433629.2:n.1880-153C>T | |
| NM_001003407.1:c.1888-166C>T | NP_001003407.1:n.1888-166C>T | |
| NM_001003408.1:c.1972-166C>T | NP_001003408.1:n.1972-166C>T | |
| NM_002313.5:c.2068-166C>T | NP_002304.3:n.2068-166C>T | |
| NM_006720.3:c.1099-166C>T | NP_006711.3:n.1099-166C>T | |
| XM_005269818.1:c.1978-166C>T | XP_005269875.1:n.1978-166C>T | |
| XM_005269824.1:c.1699-166C>T | XP_005269881.1:n.1699-166C>T | |
| XM_005269826.1:c.1330-166C>T | XP_005269883.1:n.1330-166C>T | |
| XM_005269827.3:c.1246-166C>T | XP_005269884.1:n.1246-166C>T | |
| XM_005269828.3:c.1015-166C>T | XP_005269885.1:n.1015-166C>T | |
| XM_005269830.3:c.874-166C>T | XP_005269887.1:n.874-166C>T | |
| XM_006717837.1:c.2098-166C>T | XP_006717900.1:n.2098-166C>T | |
| XM_006717838.1:c.2050-166C>T | XP_006717901.1:n.2050-166C>T | |
| XM_006717846.2:c.1330-166C>T | XP_006717909.1:n.1330-166C>T | |
| XM_006717847.1:c.1246-166C>T | XP_006717910.1:n.1246-166C>T | |
| XM_006717848.1:c.1021-166C>T | XP_006717911.1:n.1021-166C>T | |
| XM_011539801.1:c.2137-166C>T | XP_011538103.1:n.2137-166C>T | |
| XM_011539802.1:c.2050-166C>T | XP_011538104.1:n.2050-166C>T | |
| XM_011539803.1:c.2029-166C>T | XP_011538105.1:n.2029-166C>T | |
| XM_011539804.1:c.1507-166C>T | XP_011538106.1:n.1507-166C>T | |
| XM_011539805.1:c.1822-166C>T | XP_011538107.1:n.1822-166C>T | |
| XM_011539806.1:c.1366-166C>T | XP_011538108.1:n.1366-166C>T | |
| NM_001322882.2:c.1978-166C>T | NP_001309811.1:n.1978-166C>T | |
| NM_001322883.1:c.1783-166C>T | NP_001309812.1:n.1783-166C>T | |
| NM_001322884.2:c.1738-166C>T | NP_001309813.1:n.1738-166C>T | |
| NM_001322885.2:c.1732-166C>T | NP_001309814.1:n.1732-166C>T | |
| NM_001322886.2:c.1696-166C>T | NP_001309815.1:n.1696-166C>T | |
| NM_001322887.1:c.1642-166C>T | NP_001309816.1:n.1642-166C>T | |
| NM_001322888.1:c.1099-166C>T | NP_001309817.1:n.1099-166C>T | |
| NM_001322889.1:c.1063-166C>T | NP_001309818.1:n.1063-166C>T | |
| NM_001322890.1:c.1021-166C>T | NP_001309819.1:n.1021-166C>T | |
| NM_001322891.1:c.1021-166C>T | NP_001309820.1:n.1021-166C>T | |
| NM_001322892.1:c.1015-166C>T | NP_001309821.1:n.1015-166C>T | |
| NM_001322893.1:c.1015-166C>T | NP_001309822.1:n.1015-166C>T | |
| NM_001322894.1:c.979-166C>T | NP_001309823.1:n.979-166C>T | |
| NM_001322895.1:c.979-166C>T | NP_001309824.1:n.979-166C>T | |
| NM_001322896.1:c.937-166C>T | NP_001309825.1:n.937-166C>T | |
| NM_001322897.1:c.901-166C>T | NP_001309826.1:n.901-166C>T | |
| NM_001322898.1:c.874-166C>T | NP_001309827.1:n.874-166C>T | |
| NM_001322899.1:c.874-166C>T | NP_001309828.1:n.874-166C>T | |
| NM_001322900.1:c.796-166C>T | NP_001309829.1:n.796-166C>T | |
| NM_001352440.1:c.1699-166C>T | NP_001339369.1:n.1699-166C>T | |
| NM_001352441.1:c.1594-166C>T | NP_001339370.1:n.1594-166C>T | |
| NM_001352442.1:c.1507-166C>T | NP_001339371.1:n.1507-166C>T | |
| NM_001352443.1:c.1126-166C>T | NP_001339372.1:n.1126-166C>T | |
| NM_002313.6:c.2068-166C>T | NP_002304.3:n.2068-166C>T | |
| XM_005269827.4:c.1246-166C>T | XP_005269884.1:n.1246-166C>T | |
| XM_006717837.2:c.2098-166C>T | XP_006717900.1:n.2098-166C>T | |
| XM_006717846.3:c.1330-166C>T | XP_006717909.1:n.1330-166C>T | |
| XM_011539801.2:c.1822-166C>T | XP_011538103.2:n.1822-166C>T | |
| XM_011539802.2:c.2068-166C>T | XP_011538104.2:n.2068-166C>T | |
| XM_017016245.1:c.2047-166C>T | XP_016871734.1:n.2047-166C>T | |
| XM_017016247.1:c.1591-166C>T | XP_016871736.1:n.1591-166C>T | |
| XM_017016248.1:c.1591-166C>T | XP_016871737.1:n.1591-166C>T | |
| XM_017016250.1:c.1963-166C>T | XP_016871739.1:n.1963-166C>T | |
| XM_017016255.1:c.1843-166C>T | XP_016871744.1:n.1843-166C>T | |
| XM_017016256.1:c.1741-166C>T | XP_016871745.1:n.1741-166C>T | |
| XM_017016259.1:c.1126-166C>T | XP_016871748.1:n.1126-166C>T | |
| XM_024448010.1:c.1816-166C>T | XP_024303778.1:n.1816-166C>T | |
| XM_024448011.1:c.1696-166C>T | XP_024303779.1:n.1696-166C>T | |
| XM_024448012.1:c.1675-166C>T | XP_024303780.1:n.1675-166C>T | |
| XM_024448013.1:c.1738-166C>T | XP_024303781.1:n.1738-166C>T | |
| XM_024448014.1:c.2050-166C>T | XP_024303782.1:n.2050-166C>T | |
| XM_024448015.1:c.1555-166C>T | XP_024303783.1:n.1555-166C>T | |
| XM_024448016.1:c.1966-166C>T | XP_024303784.1:n.1966-166C>T | |
| XM_024448017.1:c.1450-166C>T | XP_024303785.1:n.1450-166C>T | |
| XM_024448018.1:c.1825-166C>T | XP_024303786.1:n.1825-166C>T | |
| XM_024448020.1:c.1471-166C>T | XP_024303788.1:n.1471-166C>T | |
| XM_024448021.1:c.1366-166C>T | XP_024303789.1:n.1366-166C>T | |
| XM_024448022.1:c.1120-166C>T | XP_024303790.1:n.1120-166C>T | |
| NM_001003407.2:c.1888-166C>T | NP_001003407.1:n.1888-166C>T | |
| NM_001322883.2:c.1783-166C>T | NP_001309812.1:n.1783-166C>T | |
| NM_001322884.3:c.1738-166C>T | NP_001309813.1:n.1738-166C>T | |
| NM_001322885.3:c.1732-166C>T | NP_001309814.1:n.1732-166C>T | |
| NM_001322886.3:c.1696-166C>T | NP_001309815.1:n.1696-166C>T | |
| NM_001322887.2:c.1642-166C>T | NP_001309816.1:n.1642-166C>T | |
| NM_001322888.2:c.1099-166C>T | NP_001309817.1:n.1099-166C>T | |
| NM_001322889.2:c.1063-166C>T | NP_001309818.1:n.1063-166C>T | |
| NM_001322890.2:c.1021-166C>T | NP_001309819.1:n.1021-166C>T | |
| NM_001322891.2:c.1021-166C>T | NP_001309820.1:n.1021-166C>T | |
| NM_001322892.2:c.1015-166C>T | NP_001309821.1:n.1015-166C>T | |
| NM_001322893.2:c.1015-166C>T | NP_001309822.1:n.1015-166C>T | |
| NM_001322894.2:c.979-166C>T | NP_001309823.1:n.979-166C>T | |
| NM_001322895.2:c.979-166C>T | NP_001309824.1:n.979-166C>T | |
| NM_001322896.2:c.937-166C>T | NP_001309825.1:n.937-166C>T | |
| NM_001322897.2:c.901-166C>T | NP_001309826.1:n.901-166C>T | |
| NM_001322898.2:c.874-166C>T | NP_001309827.1:n.874-166C>T | |
| NM_001322899.2:c.874-166C>T | NP_001309828.1:n.874-166C>T | |
| NM_001322900.2:c.796-166C>T | NP_001309829.1:n.796-166C>T | |
| NM_001352442.2:c.1507-166C>T | NP_001339371.1:n.1507-166C>T | |
| NM_001352443.2:c.1126-166C>T | NP_001339372.1:n.1126-166C>T | |
| NM_002313.7:c.2068-166C>T MANE Select | NP_002304.3:n.2068-166C>T | |
| NM_006720.4:c.1099-166C>T | NP_006711.3:n.1099-166C>T |