Linked Data
ClinVar Variation Id:
3010177
ClinVar RCV Id:
RCV003867352
dbSNP Id:
rs2063909887
gnomAD v3:
X-41345388-A-T
gnomAD v4:
X-41345388-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345388A>T , CM000685.2:g.41345388A>T | GRCh38 |
| NC_000023.10:g.41204641A>T , CM000685.1:g.41204641A>T | GRCh37 |
| NC_000023.9:g.41089585A>T | NCBI36 |
| NG_012830.1:g.16991A>T | |
| NG_012830.2:g.16991A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1303-16A>T | ENSP00000496052.2:n.1303-16A>T | |
| ENST00000399959.7:c.1168-16A>T | ENSP00000382840.3:n.1168-16A>T | |
| ENST00000441189.4:c.1072-16A>T | ENSP00000414281.3:n.1072-16A>T | |
| ENST00000457138.7:c.1123-16A>T | ENSP00000392494.2:n.1123-16A>T | |
| ENST00000629496.3:c.1171-16A>T | ENSP00000487224.1:n.1171-16A>T | |
| ENST00000642161.1:n.3370-16A>T | ||
| ENST00000642322.1:c.613-16A>T | ENSP00000496052.1:n.613-16A>T | |
| ENST00000642424.1:c.613-16A>T | ENSP00000496356.1:n.613-16A>T | |
| ENST00000642589.1:n.4493-16A>T | ||
| ENST00000642597.1:n.1345-16A>T | ||
| ENST00000642687.1:n.1204-16A>T | ||
| ENST00000642722.1:n.2004-16A>T | ||
| ENST00000642763.1:n.2062-16A>T | ||
| ENST00000642793.1:c.*620-16A>T | ENSP00000493976.1:n.*620-16A>T | |
| ENST00000642801.1:n.820-16A>T | ||
| ENST00000643820.1:n.447-16A>T | ||
| ENST00000643963.1:c.*453-16A>T | ENSP00000495264.1:n.*453-16A>T | |
| ENST00000644073.1:c.1129-16A>T | ENSP00000493475.1:n.1129-16A>T | |
| ENST00000644074.1:c.1168-16A>T | ENSP00000496663.1:n.1168-16A>T | |
| ENST00000644109.1:c.1333-16A>T | ENSP00000494952.1:n.1333-16A>T | |
| ENST00000644307.1:n.1325A>T | ||
| ENST00000644513.1:c.1171-16A>T | ENSP00000493819.1:n.1171-16A>T | |
| ENST00000644677.1:c.1054-16A>T | ENSP00000496524.1:n.1054-16A>T | |
| ENST00000644876.2:c.1171-16A>T MANE Select | ENSP00000494040.1:n.1171-16A>T | |
| ENST00000644958.1:n.2832-16A>T | ||
| ENST00000645080.1:c.*2393-16A>T | ENSP00000494767.1:n.*2393-16A>T | |
| ENST00000645120.1:n.2666-16A>T | ||
| ENST00000645338.1:n.1325A>T | ||
| ENST00000645380.1:n.2619A>T | ||
| ENST00000645561.1:n.2347-16A>T | ||
| ENST00000645574.1:n.4035-16A>T | ||
| ENST00000645589.1:c.1171-16A>T | ENSP00000494588.1:n.1171-16A>T | |
| ENST00000646093.1:n.355-16A>T | ||
| ENST00000646107.1:c.1054-16A>T | ENSP00000494518.1:n.1054-16A>T | |
| ENST00000646122.1:c.1171-16A>T | ENSP00000496222.1:n.1171-16A>T | |
| ENST00000646196.1:n.2140-16A>T | ||
| ENST00000646223.1:c.*1164-16A>T | ENSP00000496043.1:n.*1164-16A>T | |
| ENST00000646319.1:c.1171-16A>T | ENSP00000495377.1:n.1171-16A>T | |
| ENST00000646390.1:n.3459-16A>T | ||
| ENST00000646627.1:c.613-16A>T | ENSP00000493795.1:n.613-16A>T | |
| ENST00000646679.1:c.613-16A>T | ENSP00000494887.1:n.613-16A>T | |
| ENST00000646822.1:n.2233-16A>T | ||
| ENST00000646940.1:n.1345-16A>T | ||
| ENST00000647286.1:n.1269-16A>T | ||
| ENST00000399959.6:c.1171-16A>T | ENSP00000382840.2:n.1171-16A>T | |
| ENST00000441189.3:c.341-2252A>T | ENSP00000414281.2:n.341-2252A>T | |
| ENST00000457138.6:c.1123-16A>T | ENSP00000392494.2:n.1123-16A>T | |
| ENST00000478993.5:c.1171-16A>T | ENSP00000478443.1:n.1171-16A>T | |
| ENST00000542215.5:n.1219-16A>T | ||
| ENST00000625837.2:c.1171-16A>T | ENSP00000486306.1:n.1171-16A>T | |
| ENST00000626301.2:c.1171-16A>T | ENSP00000486443.1:n.1171-16A>T | |
| ENST00000629496.2:c.1171-16A>T | ENSP00000487224.1:n.1171-16A>T | |
| ENST00000629785.2:c.1171-16A>T | ENSP00000486516.1:n.1171-16A>T | |
| ENST00000630255.2:c.1171-16A>T | ENSP00000486720.1:n.1171-16A>T | |
| ENST00000630370.2:c.1171-16A>T | ENSP00000487062.1:n.1171-16A>T | |
| ENST00000630858.2:c.1171-16A>T | ENSP00000486514.1:n.1171-16A>T | |
| NM_001193416.2:c.1171-16A>T | NP_001180345.1:n.1171-16A>T | |
| NM_001193417.2:c.1123-16A>T | NP_001180346.1:n.1123-16A>T | |
| NM_001356.4:c.1171-16A>T | NP_001347.3:n.1171-16A>T | |
| NR_126093.1:n.2116-16A>T | ||
| XM_011543892.1:c.1171-16A>T | XP_011542194.1:n.1171-16A>T | |
| NM_001363819.1:c.613-16A>T | NP_001350748.1:n.613-16A>T | |
| XM_011543892.2:c.1171-16A>T | XP_011542194.1:n.1171-16A>T | |
| XM_017029313.1:c.613-16A>T | XP_016884802.1:n.613-16A>T | |
| NM_001193416.3:c.1171-16A>T | NP_001180345.1:n.1171-16A>T | |
| NM_001193417.3:c.1123-16A>T | NP_001180346.1:n.1123-16A>T | |
| NM_001356.5:c.1171-16A>T MANE Select | NP_001347.3:n.1171-16A>T |