Linked Data
ClinVar Variation Id:
2852599
ClinVar RCV Id:
RCV003693654
dbSNP Id:
rs762048074
ExAC:
X:41205750 T / C
gnomAD v2:
X-41205750-T-C
gnomAD v4:
X-41346497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346497T>C , CM000685.2:g.41346497T>C | GRCh38 |
| NC_000023.10:g.41205750T>C , CM000685.1:g.41205750T>C | GRCh37 |
| NC_000023.9:g.41090694T>C | NCBI36 |
| NG_012830.1:g.18100T>C | |
| NG_012830.2:g.18100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1630-8T>C | ENSP00000496052.2:n.1630-8T>C | |
| ENST00000399959.7:c.1495-8T>C | ENSP00000382840.3:n.1495-8T>C | |
| ENST00000441189.4:c.1399-8T>C | ENSP00000414281.3:n.1399-8T>C | |
| ENST00000457138.7:c.1450-8T>C | ENSP00000392494.2:n.1450-8T>C | |
| ENST00000611968.2:c.92-8T>C | ||
| ENST00000616050.3:c.246-8T>C | ||
| ENST00000629496.3:c.1498-8T>C | ENSP00000487224.1:n.1498-8T>C | |
| ENST00000642161.1:n.3697-8T>C | ||
| ENST00000642322.1:c.940-8T>C | ENSP00000496052.1:n.940-8T>C | |
| ENST00000642424.1:c.940-8T>C | ENSP00000496356.1:n.940-8T>C | |
| ENST00000642589.1:n.4820-8T>C | ||
| ENST00000642597.1:n.1672-8T>C | ||
| ENST00000642687.1:n.1531-8T>C | ||
| ENST00000642722.1:n.2331-8T>C | ||
| ENST00000642763.1:n.2389-8T>C | ||
| ENST00000642793.1:c.*947-8T>C | ENSP00000493976.1:n.*947-8T>C | |
| ENST00000642801.1:n.1147-8T>C | ||
| ENST00000643820.1:n.860T>C | ||
| ENST00000643963.1:c.*780-8T>C | ENSP00000495264.1:n.*780-8T>C | |
| ENST00000644073.1:c.1456-8T>C | ENSP00000493475.1:n.1456-8T>C | |
| ENST00000644074.1:c.1495-8T>C | ENSP00000496663.1:n.1495-8T>C | |
| ENST00000644109.1:c.1660-8T>C | ENSP00000494952.1:n.1660-8T>C | |
| ENST00000644307.1:n.1668-8T>C | ||
| ENST00000644513.1:c.1498-8T>C | ENSP00000493819.1:n.1498-8T>C | |
| ENST00000644677.1:c.1381-8T>C | ENSP00000496524.1:n.1381-8T>C | |
| ENST00000644876.2:c.1498-8T>C MANE Select | ENSP00000494040.1:n.1498-8T>C | |
| ENST00000644958.1:n.3159-8T>C | ||
| ENST00000645080.1:c.*2720-8T>C | ENSP00000494767.1:n.*2720-8T>C | |
| ENST00000645120.1:n.2993-8T>C | ||
| ENST00000645338.1:n.1668-8T>C | ||
| ENST00000645380.1:n.2962-8T>C | ||
| ENST00000645561.1:n.2674-8T>C | ||
| ENST00000645574.1:n.4362-8T>C | ||
| ENST00000645589.1:c.1501T>C | ENSP00000494588.1:p.Phe501Leu | |
| ENST00000646107.1:c.1381-8T>C | ENSP00000494518.1:n.1381-8T>C | |
| ENST00000646122.1:c.1498-8T>C | ENSP00000496222.1:n.1498-8T>C | |
| ENST00000646196.1:n.2467-8T>C | ||
| ENST00000646223.1:c.*1491-8T>C | ENSP00000496043.1:n.*1491-8T>C | |
| ENST00000646319.1:c.1498-8T>C | ENSP00000495377.1:n.1498-8T>C | |
| ENST00000646390.1:n.3786-8T>C | ||
| ENST00000646627.1:c.940-8T>C | ENSP00000493795.1:n.940-8T>C | |
| ENST00000646679.1:c.940-8T>C | ENSP00000494887.1:n.940-8T>C | |
| ENST00000646822.1:n.2560-8T>C | ||
| ENST00000646940.1:n.1672-8T>C | ||
| ENST00000647286.1:n.1596-8T>C | ||
| ENST00000647477.1:n.237-8T>C | ||
| ENST00000399959.6:c.1498-8T>C | ENSP00000382840.2:n.1498-8T>C | |
| ENST00000441189.3:c.341-1143T>C | ENSP00000414281.2:n.341-1143T>C | |
| ENST00000457138.6:c.1450-8T>C | ENSP00000392494.2:n.1450-8T>C | |
| ENST00000478993.5:c.1498-8T>C | ENSP00000478443.1:n.1498-8T>C | |
| ENST00000542215.5:n.1546-8T>C | ||
| ENST00000616050.2:c.51-8T>C | ||
| ENST00000625837.2:c.1498-8T>C | ENSP00000486306.1:n.1498-8T>C | |
| ENST00000626301.2:c.1498-8T>C | ENSP00000486443.1:n.1498-8T>C | |
| ENST00000629496.2:c.1498-8T>C | ENSP00000487224.1:n.1498-8T>C | |
| ENST00000629785.2:c.1498-8T>C | ENSP00000486516.1:n.1498-8T>C | |
| ENST00000630255.2:c.1498-8T>C | ENSP00000486720.1:n.1498-8T>C | |
| ENST00000630370.2:c.1498-8T>C | ENSP00000487062.1:n.1498-8T>C | |
| ENST00000630858.2:c.1498-8T>C | ENSP00000486514.1:n.1498-8T>C | |
| NM_001193416.2:c.1498-8T>C | NP_001180345.1:n.1498-8T>C | |
| NM_001193417.2:c.1450-8T>C | NP_001180346.1:n.1450-8T>C | |
| NM_001356.4:c.1498-8T>C | NP_001347.3:n.1498-8T>C | |
| NR_126093.1:n.2443-8T>C | ||
| XM_011543892.1:c.1498-8T>C | XP_011542194.1:n.1498-8T>C | |
| NM_001363819.1:c.940-8T>C | NP_001350748.1:n.940-8T>C | |
| XM_011543892.2:c.1498-8T>C | XP_011542194.1:n.1498-8T>C | |
| XM_017029313.1:c.940-8T>C | XP_016884802.1:n.940-8T>C | |
| NM_001193416.3:c.1498-8T>C | NP_001180345.1:n.1498-8T>C | |
| NM_001193417.3:c.1450-8T>C | NP_001180346.1:n.1450-8T>C | |
| NM_001356.5:c.1498-8T>C MANE Select | NP_001347.3:n.1498-8T>C |