Linked Data
ClinVar Variation Id:
1008102
ClinVar RCV Id:
RCV001305383
dbSNP Id:
rs763454948
ExAC:
X:41204805 A / G
gnomAD v2:
X-41204805-A-G
gnomAD v3:
X-41345552-A-G
gnomAD v4:
X-41345552-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345552A>G , CM000685.2:g.41345552A>G | GRCh38 |
| NC_000023.10:g.41204805A>G , CM000685.1:g.41204805A>G | GRCh37 |
| NC_000023.9:g.41089749A>G | NCBI36 |
| NG_012830.1:g.17155A>G | |
| NG_012830.2:g.17155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1447+4A>G | ENSP00000496052.2:n.1447+4A>G | |
| ENST00000399959.7:c.1312+4A>G | ENSP00000382840.3:n.1312+4A>G | |
| ENST00000441189.4:c.1216+4A>G | ENSP00000414281.3:n.1216+4A>G | |
| ENST00000457138.7:c.1267+4A>G | ENSP00000392494.2:n.1267+4A>G | |
| ENST00000616050.3:c.63+4A>G | ||
| ENST00000629496.3:c.1315+4A>G | ENSP00000487224.1:n.1315+4A>G | |
| ENST00000642161.1:n.3514+4A>G | ||
| ENST00000642322.1:c.757+4A>G | ENSP00000496052.1:n.757+4A>G | |
| ENST00000642424.1:c.757+4A>G | ENSP00000496356.1:n.757+4A>G | |
| ENST00000642589.1:n.4637+4A>G | ||
| ENST00000642597.1:n.1489+4A>G | ||
| ENST00000642687.1:n.1348+4A>G | ||
| ENST00000642722.1:n.2148+4A>G | ||
| ENST00000642763.1:n.2206+4A>G | ||
| ENST00000642793.1:c.*764+4A>G | ENSP00000493976.1:n.*764+4A>G | |
| ENST00000642801.1:n.964+4A>G | ||
| ENST00000643820.1:n.591+4A>G | ||
| ENST00000643963.1:c.*597+4A>G | ENSP00000495264.1:n.*597+4A>G | |
| ENST00000644073.1:c.1273+4A>G | ENSP00000493475.1:n.1273+4A>G | |
| ENST00000644074.1:c.1312+4A>G | ENSP00000496663.1:n.1312+4A>G | |
| ENST00000644109.1:c.1477+4A>G | ENSP00000494952.1:n.1477+4A>G | |
| ENST00000644307.1:n.1485+4A>G | ||
| ENST00000644513.1:c.1315+4A>G | ENSP00000493819.1:n.1315+4A>G | |
| ENST00000644677.1:c.1198+4A>G | ENSP00000496524.1:n.1198+4A>G | |
| ENST00000644876.2:c.1315+4A>G MANE Select | ENSP00000494040.1:n.1315+4A>G | |
| ENST00000644958.1:n.2976+4A>G | ||
| ENST00000645080.1:c.*2537+4A>G | ENSP00000494767.1:n.*2537+4A>G | |
| ENST00000645120.1:n.2810+4A>G | ||
| ENST00000645338.1:n.1485+4A>G | ||
| ENST00000645380.1:n.2779+4A>G | ||
| ENST00000645561.1:n.2491+4A>G | ||
| ENST00000645574.1:n.4179+4A>G | ||
| ENST00000645589.1:c.1315+4A>G | ENSP00000494588.1:n.1315+4A>G | |
| ENST00000646093.1:n.499+4A>G | ||
| ENST00000646107.1:c.1198+4A>G | ENSP00000494518.1:n.1198+4A>G | |
| ENST00000646122.1:c.1315+4A>G | ENSP00000496222.1:n.1315+4A>G | |
| ENST00000646196.1:n.2284+4A>G | ||
| ENST00000646223.1:c.*1308+4A>G | ENSP00000496043.1:n.*1308+4A>G | |
| ENST00000646319.1:c.1315+4A>G | ENSP00000495377.1:n.1315+4A>G | |
| ENST00000646390.1:n.3603+4A>G | ||
| ENST00000646627.1:c.757+4A>G | ENSP00000493795.1:n.757+4A>G | |
| ENST00000646679.1:c.757+4A>G | ENSP00000494887.1:n.757+4A>G | |
| ENST00000646822.1:n.2377+4A>G | ||
| ENST00000646940.1:n.1489+4A>G | ||
| ENST00000647286.1:n.1413+4A>G | ||
| ENST00000647477.1:n.54+4A>G | ||
| ENST00000399959.6:c.1315+4A>G | ENSP00000382840.2:n.1315+4A>G | |
| ENST00000441189.3:c.341-2088A>G | ENSP00000414281.2:n.341-2088A>G | |
| ENST00000457138.6:c.1267+4A>G | ENSP00000392494.2:n.1267+4A>G | |
| ENST00000478993.5:c.1315+4A>G | ENSP00000478443.1:n.1315+4A>G | |
| ENST00000542215.5:n.1363+4A>G | ||
| ENST00000625837.2:c.1315+4A>G | ENSP00000486306.1:n.1315+4A>G | |
| ENST00000626301.2:c.1315+4A>G | ENSP00000486443.1:n.1315+4A>G | |
| ENST00000629496.2:c.1315+4A>G | ENSP00000487224.1:n.1315+4A>G | |
| ENST00000629785.2:c.1315+4A>G | ENSP00000486516.1:n.1315+4A>G | |
| ENST00000630255.2:c.1315+4A>G | ENSP00000486720.1:n.1315+4A>G | |
| ENST00000630370.2:c.1315+4A>G | ENSP00000487062.1:n.1315+4A>G | |
| ENST00000630858.2:c.1315+4A>G | ENSP00000486514.1:n.1315+4A>G | |
| NM_001193416.2:c.1315+4A>G | NP_001180345.1:n.1315+4A>G | |
| NM_001193417.2:c.1267+4A>G | NP_001180346.1:n.1267+4A>G | |
| NM_001356.4:c.1315+4A>G | NP_001347.3:n.1315+4A>G | |
| NR_126093.1:n.2260+4A>G | ||
| XM_011543892.1:c.1315+4A>G | XP_011542194.1:n.1315+4A>G | |
| NM_001363819.1:c.757+4A>G | NP_001350748.1:n.757+4A>G | |
| XM_011543892.2:c.1315+4A>G | XP_011542194.1:n.1315+4A>G | |
| XM_017029313.1:c.757+4A>G | XP_016884802.1:n.757+4A>G | |
| NM_001193416.3:c.1315+4A>G | NP_001180345.1:n.1315+4A>G | |
| NM_001193417.3:c.1267+4A>G | NP_001180346.1:n.1267+4A>G | |
| NM_001356.5:c.1315+4A>G MANE Select | NP_001347.3:n.1315+4A>G |