Linked Data
ClinVar Variation Id:
2866994
ClinVar RCV Id:
RCV003700499
MyVariant Identifiers:
chrX:g.41205853T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346600T>A , CM000685.2:g.41346600T>A | GRCh38 |
| NC_000023.10:g.41205853T>A , CM000685.1:g.41205853T>A | GRCh37 |
| NC_000023.9:g.41090797T>A | NCBI36 |
| NG_012830.1:g.18203T>A | |
| NG_012830.2:g.18203T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1725T>A | ENSP00000496052.2:p.Arg575= | |
| ENST00000399959.7:c.1590T>A | ENSP00000382840.3:p.Arg530= | |
| ENST00000441189.4:c.1494T>A | ENSP00000414281.3:p.Arg498= | |
| ENST00000457138.7:c.1545T>A | ENSP00000392494.2:p.Arg515= | |
| ENST00000611968.2:c.187T>A | ||
| ENST00000616050.3:c.341T>A | ||
| ENST00000629496.3:c.1593T>A | ENSP00000487224.1:p.Arg531= | |
| ENST00000642161.1:n.3792T>A | ||
| ENST00000642322.1:c.1035T>A | ENSP00000496052.1:p.Arg345= | |
| ENST00000642424.1:c.1035T>A | ENSP00000496356.1:p.Arg345= | |
| ENST00000642589.1:n.4915T>A | ||
| ENST00000642597.1:n.1767T>A | ||
| ENST00000642687.1:n.1626T>A | ||
| ENST00000642722.1:n.2426T>A | ||
| ENST00000642763.1:n.2484T>A | ||
| ENST00000642793.1:c.*1042T>A | ENSP00000493976.1:n.*1042T>A | |
| ENST00000642801.1:n.1242T>A | ||
| ENST00000643820.1:n.963T>A | ||
| ENST00000643963.1:c.*875T>A | ENSP00000495264.1:n.*875T>A | |
| ENST00000644073.1:c.1551T>A | ENSP00000493475.1:p.Arg517= | |
| ENST00000644074.1:c.1590T>A | ENSP00000496663.1:p.Arg530= | |
| ENST00000644109.1:c.1755T>A | ENSP00000494952.1:p.Arg585= | |
| ENST00000644307.1:n.1763T>A | ||
| ENST00000644513.1:c.1593T>A | ENSP00000493819.1:p.Arg531= | |
| ENST00000644677.1:c.1476T>A | ENSP00000496524.1:p.Arg492= | |
| ENST00000644876.2:c.1593T>A MANE Select | ENSP00000494040.1:p.Arg531= | |
| ENST00000644958.1:n.3254T>A | ||
| ENST00000645080.1:c.*2815T>A | ENSP00000494767.1:n.*2815T>A | |
| ENST00000645120.1:n.3088T>A | ||
| ENST00000645338.1:n.1763T>A | ||
| ENST00000645380.1:n.3057T>A | ||
| ENST00000645561.1:n.2769T>A | ||
| ENST00000645574.1:n.4457T>A | ||
| ENST00000645589.1:c.*92T>A | ENSP00000494588.1:n.*92T>A | |
| ENST00000646107.1:c.1476T>A | ENSP00000494518.1:p.Arg492= | |
| ENST00000646122.1:c.1593T>A | ENSP00000496222.1:p.Arg531= | |
| ENST00000646196.1:n.2562T>A | ||
| ENST00000646223.1:c.*1586T>A | ENSP00000496043.1:n.*1586T>A | |
| ENST00000646319.1:c.1593T>A | ENSP00000495377.1:p.Arg531= | |
| ENST00000646390.1:n.3881T>A | ||
| ENST00000646627.1:c.1035T>A | ENSP00000493795.1:p.Arg345= | |
| ENST00000646679.1:c.1035T>A | ENSP00000494887.1:p.Arg345= | |
| ENST00000646822.1:n.2655T>A | ||
| ENST00000646940.1:n.1767T>A | ||
| ENST00000647286.1:n.1691T>A | ||
| ENST00000647477.1:n.332T>A | ||
| ENST00000399959.6:c.1593T>A | ENSP00000382840.2:p.Arg531= | |
| ENST00000441189.3:c.341-1040T>A | ENSP00000414281.2:n.341-1040T>A | |
| ENST00000457138.6:c.1545T>A | ENSP00000392494.2:p.Arg515= | |
| ENST00000478993.5:c.1593T>A | ENSP00000478443.1:p.Arg531= | |
| ENST00000611968.1:c.35T>A | ||
| ENST00000616050.2:c.146T>A | ||
| ENST00000625837.2:c.1593T>A | ENSP00000486306.1:p.Arg531= | |
| ENST00000626301.2:c.1593T>A | ENSP00000486443.1:p.Arg531= | |
| ENST00000629496.2:c.1593T>A | ENSP00000487224.1:p.Arg531= | |
| ENST00000629785.2:c.1593T>A | ENSP00000486516.1:p.Arg531= | |
| ENST00000630255.2:c.1593T>A | ENSP00000486720.1:p.Arg531= | |
| ENST00000630370.2:c.1593T>A | ENSP00000487062.1:p.Arg531= | |
| ENST00000630858.2:c.1593T>A | ENSP00000486514.1:p.Arg531= | |
| NM_001193416.2:c.1593T>A | NP_001180345.1:p.Arg531= | |
| NM_001193417.2:c.1545T>A | NP_001180346.1:p.Arg515= | |
| NM_001356.4:c.1593T>A | NP_001347.3:p.Arg531= | |
| NR_126093.1:n.2538T>A | ||
| XM_011543892.1:c.1593T>A | XP_011542194.1:p.Arg531= | |
| NM_001363819.1:c.1035T>A | NP_001350748.1:p.Arg345= | |
| XM_011543892.2:c.1593T>A | XP_011542194.1:p.Arg531= | |
| XM_017029313.1:c.1035T>A | XP_016884802.1:p.Arg345= | |
| NM_001193416.3:c.1593T>A | NP_001180345.1:p.Arg531= | |
| NM_001193417.3:c.1545T>A | NP_001180346.1:p.Arg515= | |
| NM_001356.5:c.1593T>A MANE Select | NP_001347.3:p.Arg531= |