Linked Data
ClinVar Variation Id:
246611
ClinVar RCV Id:
RCV000292661
RCV000375315
RCV000437503
RCV001080424
RCV001269483
RCV000720996
RCV000990470
RCV001726070
RCV003907910
dbSNP Id:
rs142959373
ExAC:
X:14863136 A / G
gnomAD v2:
X-14863136-A-G
gnomAD v3:
X-14845014-A-G
gnomAD v4:
X-14845014-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.14845014A>G , CM000685.2:g.14845014A>G | GRCh38 |
| NC_000023.10:g.14863136A>G , CM000685.1:g.14863136A>G | GRCh37 |
| NC_000023.9:g.14773057A>G | NCBI36 |
| NG_007310.1:g.33049T>C , LRG_496:g.33049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452869.2:c.1769T>C | ENSP00000397849.2:p.Phe590Ser | |
| ENST00000643728.2:c.*848T>C | ENSP00000495047.1:n.*848T>C | |
| ENST00000696311.1:c.1769T>C | ENSP00000512549.1:p.Phe590Ser | |
| ENST00000696312.1:c.1769T>C | ENSP00000512550.1:p.Phe590Ser | |
| ENST00000696322.1:c.1142T>C | ||
| ENST00000696351.1:c.1769T>C | ENSP00000512572.1:p.Phe590Ser | |
| ENST00000696352.1:c.1769T>C | ENSP00000512573.1:p.Phe590Ser | |
| ENST00000696353.1:c.1769T>C | ENSP00000512574.1:p.Phe590Ser | |
| ENST00000696354.1:c.1769T>C | ENSP00000512575.1:p.Phe590Ser | |
| ENST00000696355.1:c.1497-274T>C | ENSP00000512576.1:n.1497-274T>C | |
| ENST00000696356.1:c.1769T>C | ENSP00000512577.1:p.Phe590Ser | |
| ENST00000696357.1:c.1769T>C | ENSP00000512578.1:p.Phe590Ser | |
| ENST00000643728.1:c.*848T>C | ENSP00000495047.1:n.*848T>C | |
| ENST00000646255.1:c.*761T>C | ENSP00000494963.1:n.*761T>C | |
| ENST00000650831.1:c.1769T>C MANE Select | ENSP00000498215.1:p.Phe590Ser | |
| ENST00000324138.7:c.1769T>C | ENSP00000326819.3:p.Phe590Ser | |
| ENST00000398334.5:c.1769T>C | ENSP00000381378.1:p.Phe590Ser | |
| ENST00000452869.1:c.1769T>C | ENSP00000397849.1:p.Phe590Ser | |
| NM_001018113.1:c.1769T>C , LRG_496t1:c.1769T>C | NP_001018123.1:p.Phe590Ser | |
| NM_152633.2:c.1769T>C | NP_689846.1:p.Phe590Ser | |
| XM_011545470.1:c.1769T>C | XP_011543772.1:p.Phe590Ser | |
| NM_001018113.2:c.1769T>C | NP_001018123.1:p.Phe590Ser | |
| NM_001324162.1:c.1769T>C | NP_001311091.1:p.Phe590Ser | |
| NM_152633.3:c.1769T>C | NP_689846.1:p.Phe590Ser | |
| XM_011545470.2:c.1769T>C | XP_011543772.1:p.Phe590Ser | |
| XM_017029355.2:c.1769T>C | XP_016884844.1:p.Phe590Ser | |
| XM_017029356.1:c.1769T>C | XP_016884845.1:p.Phe590Ser | |
| XR_001755672.1:n.2230T>C | ||
| XR_001755673.1:n.2022T>C | ||
| XR_001755674.1:n.1923T>C | ||
| NM_001018113.3:c.1769T>C MANE Select | NP_001018123.1:p.Phe590Ser | |
| NM_001324162.2:c.1769T>C | NP_001311091.1:p.Phe590Ser | |
| NM_152633.4:c.1769T>C | NP_689846.1:p.Phe590Ser |