Linked Data
ClinVar Variation Id:
3005773
ClinVar RCV Id:
RCV003863860
dbSNP Id:
rs766959818
ExAC:
X:41204640 A / C
gnomAD v2:
X-41204640-A-C
gnomAD v3:
X-41345387-A-C
gnomAD v4:
X-41345387-A-C
MyVariant Identifiers:
chrX:g.41204640A>C (hg19)
chrX:g.41204640_41204643delinsCATT (hg19)
chrX:g.41345387A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345387A>C , CM000685.2:g.41345387A>C | GRCh38 |
| NC_000023.10:g.41204640A>C , CM000685.1:g.41204640A>C | GRCh37 |
| NC_000023.9:g.41089584A>C | NCBI36 |
| NG_012830.1:g.16990A>C | |
| NG_012830.2:g.16990A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1303-17A>C | ENSP00000496052.2:n.1303-17A>C | |
| ENST00000399959.7:c.1168-17A>C | ENSP00000382840.3:n.1168-17A>C | |
| ENST00000441189.4:c.1072-17A>C | ENSP00000414281.3:n.1072-17A>C | |
| ENST00000457138.7:c.1123-17A>C | ENSP00000392494.2:n.1123-17A>C | |
| ENST00000629496.3:c.1171-17A>C | ENSP00000487224.1:n.1171-17A>C | |
| ENST00000642161.1:n.3370-17A>C | ||
| ENST00000642322.1:c.613-17A>C | ENSP00000496052.1:n.613-17A>C | |
| ENST00000642424.1:c.613-17A>C | ENSP00000496356.1:n.613-17A>C | |
| ENST00000642589.1:n.4493-17A>C | ||
| ENST00000642597.1:n.1345-17A>C | ||
| ENST00000642687.1:n.1204-17A>C | ||
| ENST00000642722.1:n.2004-17A>C | ||
| ENST00000642763.1:n.2062-17A>C | ||
| ENST00000642793.1:c.*620-17A>C | ENSP00000493976.1:n.*620-17A>C | |
| ENST00000642801.1:n.820-17A>C | ||
| ENST00000643820.1:n.447-17A>C | ||
| ENST00000643963.1:c.*453-17A>C | ENSP00000495264.1:n.*453-17A>C | |
| ENST00000644073.1:c.1129-17A>C | ENSP00000493475.1:n.1129-17A>C | |
| ENST00000644074.1:c.1168-17A>C | ENSP00000496663.1:n.1168-17A>C | |
| ENST00000644109.1:c.1333-17A>C | ENSP00000494952.1:n.1333-17A>C | |
| ENST00000644307.1:n.1324A>C | ||
| ENST00000644513.1:c.1171-17A>C | ENSP00000493819.1:n.1171-17A>C | |
| ENST00000644677.1:c.1054-17A>C | ENSP00000496524.1:n.1054-17A>C | |
| ENST00000644876.2:c.1171-17A>C MANE Select | ENSP00000494040.1:n.1171-17A>C | |
| ENST00000644958.1:n.2832-17A>C | ||
| ENST00000645080.1:c.*2393-17A>C | ENSP00000494767.1:n.*2393-17A>C | |
| ENST00000645120.1:n.2666-17A>C | ||
| ENST00000645338.1:n.1324A>C | ||
| ENST00000645380.1:n.2618A>C | ||
| ENST00000645561.1:n.2347-17A>C | ||
| ENST00000645574.1:n.4035-17A>C | ||
| ENST00000645589.1:c.1171-17A>C | ENSP00000494588.1:n.1171-17A>C | |
| ENST00000646093.1:n.355-17A>C | ||
| ENST00000646107.1:c.1054-17A>C | ENSP00000494518.1:n.1054-17A>C | |
| ENST00000646122.1:c.1171-17A>C | ENSP00000496222.1:n.1171-17A>C | |
| ENST00000646196.1:n.2140-17A>C | ||
| ENST00000646223.1:c.*1164-17A>C | ENSP00000496043.1:n.*1164-17A>C | |
| ENST00000646319.1:c.1171-17A>C | ENSP00000495377.1:n.1171-17A>C | |
| ENST00000646390.1:n.3459-17A>C | ||
| ENST00000646627.1:c.613-17A>C | ENSP00000493795.1:n.613-17A>C | |
| ENST00000646679.1:c.613-17A>C | ENSP00000494887.1:n.613-17A>C | |
| ENST00000646822.1:n.2233-17A>C | ||
| ENST00000646940.1:n.1345-17A>C | ||
| ENST00000647286.1:n.1269-17A>C | ||
| ENST00000399959.6:c.1171-17A>C | ENSP00000382840.2:n.1171-17A>C | |
| ENST00000441189.3:c.341-2253A>C | ENSP00000414281.2:n.341-2253A>C | |
| ENST00000457138.6:c.1123-17A>C | ENSP00000392494.2:n.1123-17A>C | |
| ENST00000478993.5:c.1171-17A>C | ENSP00000478443.1:n.1171-17A>C | |
| ENST00000542215.5:n.1219-17A>C | ||
| ENST00000625837.2:c.1171-17A>C | ENSP00000486306.1:n.1171-17A>C | |
| ENST00000626301.2:c.1171-17A>C | ENSP00000486443.1:n.1171-17A>C | |
| ENST00000629496.2:c.1171-17A>C | ENSP00000487224.1:n.1171-17A>C | |
| ENST00000629785.2:c.1171-17A>C | ENSP00000486516.1:n.1171-17A>C | |
| ENST00000630255.2:c.1171-17A>C | ENSP00000486720.1:n.1171-17A>C | |
| ENST00000630370.2:c.1171-17A>C | ENSP00000487062.1:n.1171-17A>C | |
| ENST00000630858.2:c.1171-17A>C | ENSP00000486514.1:n.1171-17A>C | |
| NM_001193416.2:c.1171-17A>C | NP_001180345.1:n.1171-17A>C | |
| NM_001193417.2:c.1123-17A>C | NP_001180346.1:n.1123-17A>C | |
| NM_001356.4:c.1171-17A>C | NP_001347.3:n.1171-17A>C | |
| NR_126093.1:n.2116-17A>C | ||
| XM_011543892.1:c.1171-17A>C | XP_011542194.1:n.1171-17A>C | |
| NM_001363819.1:c.613-17A>C | NP_001350748.1:n.613-17A>C | |
| XM_011543892.2:c.1171-17A>C | XP_011542194.1:n.1171-17A>C | |
| XM_017029313.1:c.613-17A>C | XP_016884802.1:n.613-17A>C | |
| NM_001193416.3:c.1171-17A>C | NP_001180345.1:n.1171-17A>C | |
| NM_001193417.3:c.1123-17A>C | NP_001180346.1:n.1123-17A>C | |
| NM_001356.5:c.1171-17A>C MANE Select | NP_001347.3:n.1171-17A>C |