Linked Data
ClinVar Variation Id:
45866
dbSNP Id:
rs111033369
ExAC:
10:73406232 G / A
gnomAD v2:
10-73406232-G-A
gnomAD v3:
10-71646475-G-A
gnomAD v4:
10-71646475-G-A
PubMed:
PMID:16679490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71646475G>A , CM000672.2:g.71646475G>A | GRCh38 |
| NC_000010.10:g.73406232G>A , CM000672.1:g.73406232G>A | GRCh37 |
| NC_000010.9:g.73076238G>A | NCBI36 |
| NG_008835.1:g.254529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.1307G>A MANE Select | ENSP00000224721.9:p.Ser436Asn | |
| ENST00000398809.9:c.1307G>A | ENSP00000381789.5:p.Ser436Asn | |
| ENST00000442677.4:c.1307G>A | ENSP00000388894.3:p.Ser436Asn | |
| ENST00000466757.8:c.738G>A | ||
| ENST00000643732.1:n.1143G>A | ||
| ENST00000646131.1:c.971G>A | ENSP00000495098.1:p.Ser324Asn | |
| ENST00000224721.10:c.1322G>A | ENSP00000224721.8:p.Ser441Asn | |
| ENST00000299366.11:c.1307G>A | ENSP00000299366.8:p.Ser436Asn | |
| ENST00000398809.8:c.1307G>A | ENSP00000381789.5:p.Ser436Asn | |
| ENST00000398842.7:c.1052G>A | ENSP00000381822.4:p.Ser351Asn | |
| ENST00000442677.3:c.82G>A | ||
| ENST00000461841.7:c.1307G>A | ENSP00000473454.2:p.Ser436Asn | |
| ENST00000466757.7:c.738G>A | ||
| ENST00000470494.5:c.276G>A | ||
| ENST00000616684.4:c.1307G>A | ENSP00000482036.2:p.Ser436Asn | |
| ENST00000622827.4:c.1307G>A | ENSP00000483211.1:p.Ser436Asn | |
| NM_001171930.1:c.1307G>A | NP_001165401.1:p.Ser436Asn | |
| NM_001171931.1:c.1307G>A | NP_001165402.1:p.Ser436Asn | |
| NM_022124.5:c.1307G>A | NP_071407.4:p.Ser436Asn | |
| NM_052836.3:c.1307G>A | NP_443068.1:p.Ser436Asn | |
| XM_006717940.2:c.1502G>A | XP_006718003.1:p.Ser501Asn | |
| XM_006717942.2:c.1436G>A | XP_006718005.1:p.Ser479Asn | |
| XM_011540039.1:c.1502G>A | XP_011538341.1:p.Ser501Asn | |
| XM_011540040.1:c.1496G>A | XP_011538342.1:p.Ser499Asn | |
| XM_011540041.1:c.1442G>A | XP_011538343.1:p.Ser481Asn | |
| XM_011540042.1:c.1502G>A | XP_011538344.1:p.Ser501Asn | |
| XM_011540043.1:c.1502G>A | XP_011538345.1:p.Ser501Asn | |
| XM_011540044.1:c.1367G>A | XP_011538346.1:p.Ser456Asn | |
| XM_011540045.1:c.1502G>A | XP_011538347.1:p.Ser501Asn | |
| XM_011540046.1:c.962G>A | XP_011538348.1:p.Ser321Asn | |
| XM_011540047.1:c.320G>A | XP_011538349.1:p.Ser107Asn | |
| XM_011540048.1:c.1502G>A | XP_011538350.1:p.Ser501Asn | |
| XM_011540049.1:c.1502G>A | XP_011538351.1:p.Ser501Asn | |
| XM_011540050.1:c.1502G>A | XP_011538352.1:p.Ser501Asn | |
| XM_011540051.1:c.1502G>A | XP_011538353.1:p.Ser501Asn | |
| XM_011540053.1:c.1502G>A | XP_011538355.1:p.Ser501Asn | |
| XM_011540054.1:c.1442G>A | XP_011538356.1:p.Ser481Asn | |
| XR_945796.1:n.1745G>A | ||
| NM_001171930.2:c.1307G>A | NP_001165401.1:p.Ser436Asn | |
| NM_001171931.2:c.1307G>A | NP_001165402.1:p.Ser436Asn | |
| NM_022124.6:c.1307G>A MANE Select | NP_071407.4:p.Ser436Asn | |
| NM_052836.4:c.1307G>A | NP_443068.1:p.Ser436Asn |