Linked Data
ClinVar Variation Id:
368024
dbSNP Id:
rs199510538
ExAC:
X:14868629 C / A
gnomAD v2:
X-14868629-C-A
gnomAD v3:
X-14850507-C-A
gnomAD v4:
X-14850507-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.14850507C>A , CM000685.2:g.14850507C>A | GRCh38 |
| NC_000023.10:g.14868629C>A , CM000685.1:g.14868629C>A | GRCh37 |
| NC_000023.9:g.14778550C>A | NCBI36 |
| NG_007310.1:g.27556G>T , LRG_496:g.27556G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452869.2:c.1494G>T | ENSP00000397849.2:p.Lys498Asn | |
| ENST00000643728.2:c.*573G>T | ENSP00000495047.1:n.*573G>T | |
| ENST00000696311.1:c.1494G>T | ENSP00000512549.1:p.Lys498Asn | |
| ENST00000696312.1:c.1494G>T | ENSP00000512550.1:p.Lys498Asn | |
| ENST00000696322.1:c.867G>T | ||
| ENST00000696351.1:c.1494G>T | ENSP00000512572.1:p.Lys498Asn | |
| ENST00000696352.1:c.1494G>T | ENSP00000512573.1:p.Lys498Asn | |
| ENST00000696353.1:c.1494G>T | ENSP00000512574.1:p.Lys498Asn | |
| ENST00000696354.1:c.1494G>T | ENSP00000512575.1:p.Lys498Asn | |
| ENST00000696355.1:c.1494G>T | ENSP00000512576.1:p.Lys498Asn | |
| ENST00000696356.1:c.1494G>T | ENSP00000512577.1:p.Lys498Asn | |
| ENST00000696357.1:c.1494G>T | ENSP00000512578.1:p.Lys498Asn | |
| ENST00000643728.1:c.*573G>T | ENSP00000495047.1:n.*573G>T | |
| ENST00000646255.1:c.*486G>T | ENSP00000494963.1:n.*486G>T | |
| ENST00000650831.1:c.1494G>T MANE Select | ENSP00000498215.1:p.Lys498Asn | |
| ENST00000324138.7:c.1494G>T | ENSP00000326819.3:p.Lys498Asn | |
| ENST00000398334.5:c.1494G>T | ENSP00000381378.1:p.Lys498Asn | |
| ENST00000452869.1:c.1494G>T | ENSP00000397849.1:p.Lys498Asn | |
| NM_001018113.1:c.1494G>T , LRG_496t1:c.1494G>T | NP_001018123.1:p.Lys498Asn | |
| NM_152633.2:c.1494G>T | NP_689846.1:p.Lys498Asn | |
| XM_011545470.1:c.1494G>T | XP_011543772.1:p.Lys498Asn | |
| NM_001018113.2:c.1494G>T | NP_001018123.1:p.Lys498Asn | |
| NM_001324162.1:c.1494G>T | NP_001311091.1:p.Lys498Asn | |
| NM_152633.3:c.1494G>T | NP_689846.1:p.Lys498Asn | |
| XM_011545470.2:c.1494G>T | XP_011543772.1:p.Lys498Asn | |
| XM_017029355.2:c.1494G>T | XP_016884844.1:p.Lys498Asn | |
| XM_017029356.1:c.1494G>T | XP_016884845.1:p.Lys498Asn | |
| XR_001755672.1:n.1955G>T | ||
| XR_001755673.1:n.1747G>T | ||
| XR_001755674.1:n.1648G>T | ||
| NM_001018113.3:c.1494G>T MANE Select | NP_001018123.1:p.Lys498Asn | |
| NM_001324162.2:c.1494G>T | NP_001311091.1:p.Lys498Asn | |
| NM_152633.4:c.1494G>T | NP_689846.1:p.Lys498Asn |