MyVariant.info:
GRCh37
chrX:g.41205773C>T
gnomAD v4:
Joint Max Group AF
0.00000978 (EAS)
Exomes Max Group AF
0.00001097 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346520C>T , CM000685.2:g.41346520C>T | GRCh38 |
| NC_000023.10:g.41205773C>T , CM000685.1:g.41205773C>T | GRCh37 |
| NC_000023.9:g.41090717C>T | NCBI36 |
| NG_012830.1:g.18123C>T | |
| NG_012830.2:g.18123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1645C>T | ENSP00000496052.2:p.Leu549= | |
| ENST00000399959.7:c.1510C>T | ENSP00000382840.3:p.Leu504= | |
| ENST00000441189.4:c.1414C>T | ENSP00000414281.3:p.Leu472= | |
| ENST00000457138.7:c.1465C>T | ENSP00000392494.2:p.Leu489= | |
| ENST00000611968.2:c.107C>T | ||
| ENST00000616050.3:c.261C>T | ||
| ENST00000629496.3:c.1513C>T | ENSP00000487224.1:p.Leu505= | |
| ENST00000642161.1:n.3712C>T | ||
| ENST00000642322.1:c.955C>T | ENSP00000496052.1:p.Leu319= | |
| ENST00000642424.1:c.955C>T | ENSP00000496356.1:p.Leu319= | |
| ENST00000642589.1:n.4835C>T | ||
| ENST00000642597.1:n.1687C>T | ||
| ENST00000642687.1:n.1546C>T | ||
| ENST00000642722.1:n.2346C>T | ||
| ENST00000642763.1:n.2404C>T | ||
| ENST00000642793.1:c.*962C>T | ENSP00000493976.1:n.*962C>T | |
| ENST00000642801.1:n.1162C>T | ||
| ENST00000643820.1:n.883C>T | ||
| ENST00000643963.1:c.*795C>T | ENSP00000495264.1:n.*795C>T | |
| ENST00000644073.1:c.1471C>T | ENSP00000493475.1:p.Leu491= | |
| ENST00000644074.1:c.1510C>T | ENSP00000496663.1:p.Leu504= | |
| ENST00000644109.1:c.1675C>T | ENSP00000494952.1:p.Leu559= | |
| ENST00000644307.1:n.1683C>T | ||
| ENST00000644513.1:c.1513C>T | ENSP00000493819.1:p.Leu505= | |
| ENST00000644677.1:c.1396C>T | ENSP00000496524.1:p.Leu466= | |
| ENST00000644876.2:c.1513C>T MANE Select | ENSP00000494040.1:p.Leu505= | |
| ENST00000644958.1:n.3174C>T | ||
| ENST00000645080.1:c.*2735C>T | ENSP00000494767.1:n.*2735C>T | |
| ENST00000645120.1:n.3008C>T | ||
| ENST00000645338.1:n.1683C>T | ||
| ENST00000645380.1:n.2977C>T | ||
| ENST00000645561.1:n.2689C>T | ||
| ENST00000645574.1:n.4377C>T | ||
| ENST00000645589.1:c.*12C>T | ENSP00000494588.1:n.*12C>T | |
| ENST00000646107.1:c.1396C>T | ENSP00000494518.1:p.Leu466= | |
| ENST00000646122.1:c.1513C>T | ENSP00000496222.1:p.Leu505= | |
| ENST00000646196.1:n.2482C>T | ||
| ENST00000646223.1:c.*1506C>T | ENSP00000496043.1:n.*1506C>T | |
| ENST00000646319.1:c.1513C>T | ENSP00000495377.1:p.Leu505= | |
| ENST00000646390.1:n.3801C>T | ||
| ENST00000646627.1:c.955C>T | ENSP00000493795.1:p.Leu319= | |
| ENST00000646679.1:c.955C>T | ENSP00000494887.1:p.Leu319= | |
| ENST00000646822.1:n.2575C>T | ||
| ENST00000646940.1:n.1687C>T | ||
| ENST00000647286.1:n.1611C>T | ||
| ENST00000647477.1:n.252C>T | ||
| ENST00000399959.6:c.1513C>T | ENSP00000382840.2:p.Leu505= | |
| ENST00000441189.3:c.341-1120C>T | ENSP00000414281.2:n.341-1120C>T | |
| ENST00000457138.6:c.1465C>T | ENSP00000392494.2:p.Leu489= | |
| ENST00000478993.5:c.1513C>T | ENSP00000478443.1:p.Leu505= | |
| ENST00000542215.5:n.1561C>T | ||
| ENST00000616050.2:c.66C>T | ||
| ENST00000625837.2:c.1513C>T | ENSP00000486306.1:p.Leu505= | |
| ENST00000626301.2:c.1513C>T | ENSP00000486443.1:p.Leu505= | |
| ENST00000629496.2:c.1513C>T | ENSP00000487224.1:p.Leu505= | |
| ENST00000629785.2:c.1513C>T | ENSP00000486516.1:p.Leu505= | |
| ENST00000630255.2:c.1513C>T | ENSP00000486720.1:p.Leu505= | |
| ENST00000630370.2:c.1513C>T | ENSP00000487062.1:p.Leu505= | |
| ENST00000630858.2:c.1513C>T | ENSP00000486514.1:p.Leu505= | |
| NM_001193416.2:c.1513C>T | NP_001180345.1:p.Leu505= | |
| NM_001193417.2:c.1465C>T | NP_001180346.1:p.Leu489= | |
| NM_001356.4:c.1513C>T | NP_001347.3:p.Leu505= | |
| NR_126093.1:n.2458C>T | ||
| XM_011543892.1:c.1513C>T | XP_011542194.1:p.Leu505= | |
| NM_001363819.1:c.955C>T | NP_001350748.1:p.Leu319= | |
| XM_011543892.2:c.1513C>T | XP_011542194.1:p.Leu505= | |
| XM_017029313.1:c.955C>T | XP_016884802.1:p.Leu319= | |
| NM_001193416.3:c.1513C>T | NP_001180345.1:p.Leu505= | |
| NM_001193417.3:c.1465C>T | NP_001180346.1:p.Leu489= | |
| NM_001356.5:c.1513C>T MANE Select | NP_001347.3:p.Leu505= |