Linked Data
dbSNP Id:
rs782142009
ExAC:
X:71684461 C / G
gnomAD v2:
X-71684461-C-G
gnomAD v4:
X-72464611-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72464611C>G , CM000685.2:g.72464611C>G | GRCh38 |
| NC_000023.10:g.71684461C>G , CM000685.1:g.71684461C>G | GRCh37 |
| NC_000023.9:g.71601186C>G | NCBI36 |
| NG_015851.1:g.113493G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373568.7:c.858G>C | ENSP00000362669.3:p.Lys286Asn | |
| ENST00000373573.9:c.858G>C MANE Select | ENSP00000362674.3:p.Lys286Asn | |
| ENST00000373583.6:c.780G>C | ENSP00000362685.2:p.Lys260Asn | |
| ENST00000373589.9:c.585G>C | ENSP00000362691.4:p.Lys195Asn | |
| ENST00000415409.6:c.858G>C | ENSP00000396424.2:p.Lys286Asn | |
| ENST00000436675.6:c.*113G>C | ENSP00000416489.1:n.*113G>C | |
| ENST00000478743.2:n.944G>C | ||
| ENST00000647594.1:c.858G>C | ENSP00000496814.1:p.Lys286Asn | |
| ENST00000647606.1:c.633G>C | ||
| ENST00000647613.1:c.*611G>C | ENSP00000497911.1:n.*611G>C | |
| ENST00000647641.1:n.945G>C | ||
| ENST00000647654.1:c.585G>C | ENSP00000497568.1:p.Lys195Asn | |
| ENST00000647718.1:n.913G>C | ||
| ENST00000647859.1:c.858G>C | ENSP00000497530.1:p.Lys286Asn | |
| ENST00000647886.1:c.858G>C | ENSP00000497188.1:p.Lys286Asn | |
| ENST00000647980.1:c.852G>C | ENSP00000498002.1:p.Lys284Asn | |
| ENST00000648139.1:c.558G>C | ENSP00000496818.1:p.Lys186Asn | |
| ENST00000648276.1:c.102G>C | ENSP00000497619.1:p.Lys34Asn | |
| ENST00000648285.1:n.641G>C | ||
| ENST00000648298.1:c.858G>C | ENSP00000496866.1:p.Lys286Asn | |
| ENST00000648452.1:c.858G>C | ENSP00000497268.1:p.Lys286Asn | |
| ENST00000648459.1:c.255G>C | ENSP00000498072.1:p.Lys85Asn | |
| ENST00000648504.1:c.795G>C | ENSP00000497668.1:p.Lys265Asn | |
| ENST00000648711.1:c.483G>C | ENSP00000498040.1:p.Lys161Asn | |
| ENST00000648731.1:c.964G>C | ||
| ENST00000648834.1:c.858G>C | ENSP00000497764.1:p.Lys286Asn | |
| ENST00000648850.1:c.493G>C | ||
| ENST00000648855.1:n.782G>C | ||
| ENST00000648870.1:c.858G>C | ENSP00000497599.1:p.Lys286Asn | |
| ENST00000648922.1:c.858G>C | ENSP00000497072.1:p.Lys286Asn | |
| ENST00000648939.1:c.858G>C | ENSP00000497442.1:p.Lys286Asn | |
| ENST00000649097.1:c.858G>C | ENSP00000497551.1:p.Lys286Asn | |
| ENST00000649116.1:c.*415G>C | ENSP00000497925.1:n.*415G>C | |
| ENST00000649181.1:c.*220G>C | ENSP00000498150.1:n.*220G>C | |
| ENST00000649242.1:c.*462G>C | ENSP00000497943.1:n.*462G>C | |
| ENST00000649274.1:c.796G>C | ENSP00000497032.1:n.796G>C | |
| ENST00000649518.1:c.*462G>C | ENSP00000498169.1:n.*462G>C | |
| ENST00000649543.1:c.*462G>C | ENSP00000496826.1:n.*462G>C | |
| ENST00000649752.1:c.585G>C | ENSP00000497267.1:p.Lys195Asn | |
| ENST00000650076.1:c.211+24322G>C | ||
| ENST00000650471.1:c.*302G>C | ENSP00000498027.1:n.*302G>C | |
| ENST00000650604.1:c.285G>C | ENSP00000497105.1:p.Lys95Asn | |
| ENST00000373568.6:c.585G>C | ENSP00000362669.2:p.Lys195Asn | |
| ENST00000373573.7:c.858G>C | ENSP00000362674.3:p.Lys286Asn | |
| ENST00000373583.5:c.164+107446G>C | ENSP00000362685.1:n.164+107446G>C | |
| ENST00000373589.8:c.585G>C | ENSP00000362691.4:p.Lys195Asn | |
| ENST00000415409.5:c.780G>C | ENSP00000396424.1:p.Lys260Asn | |
| ENST00000436675.5:c.*113G>C | ENSP00000416489.1:n.*113G>C | |
| NM_001166418.1:c.585G>C | NP_001159890.1:p.Lys195Asn | |
| NM_018486.2:c.858G>C | NP_060956.1:p.Lys286Asn | |
| NR_051952.1:n.1058G>C | ||
| XM_011530986.1:c.858G>C | XP_011529288.1:p.Lys286Asn | |
| XM_011530987.1:c.858G>C | XP_011529289.1:p.Lys286Asn | |
| XM_011530988.1:c.858G>C | XP_011529290.1:p.Lys286Asn | |
| XR_938402.1:n.944G>C | ||
| XM_011530986.3:c.858G>C | XP_011529288.3:p.Lys286Asn | |
| XM_017029640.2:c.780G>C | XP_016885129.2:p.Lys260Asn | |
| XM_017029641.2:c.780G>C | XP_016885130.2:p.Lys260Asn | |
| XM_017029642.1:c.699G>C | XP_016885131.1:p.Lys233Asn | |
| XM_017029643.2:c.672G>C | XP_016885132.1:p.Lys224Asn | |
| XM_017029644.2:c.621G>C | XP_016885133.1:p.Lys207Asn | |
| XM_017029645.2:c.672G>C | XP_016885134.1:p.Lys224Asn | |
| XM_017029646.1:c.471G>C | XP_016885135.1:p.Lys157Asn | |
| XM_024452405.1:c.273G>C | XP_024308173.1:p.Lys91Asn | |
| XR_001755711.2:n.944G>C | ||
| XR_002958779.1:n.944G>C | ||
| XR_002958780.1:n.944G>C | ||
| XR_002958781.1:n.944G>C | ||
| XR_002958782.1:n.920G>C | ||
| XR_002958783.1:n.920G>C | ||
| XR_938402.3:n.944G>C | ||
| NM_018486.3:c.858G>C MANE Select | NP_060956.1:p.Lys286Asn | |
| NM_001166418.2:c.585G>C | NP_001159890.1:p.Lys195Asn | |
| NR_051952.2:n.798G>C |