Linked Data
ClinVar Variation Id:
300397
dbSNP Id:
rs760922529
ExAC:
10:73157066 C / A
gnomAD v2:
10-73157066-C-A
gnomAD v3:
10-71397309-C-A
gnomAD v4:
10-71397309-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71397309C>A , CM000672.2:g.71397309C>A | GRCh38 |
| NC_000010.10:g.73157066C>A , CM000672.1:g.73157066C>A | GRCh37 |
| NC_000010.9:g.72827072C>A | NCBI36 |
| NG_008835.1:g.5363C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.-15C>A MANE Select | ENSP00000224721.9:n.-15C>A | |
| ENST00000398809.9:c.-15C>A | ENSP00000381789.5:n.-15C>A | |
| ENST00000644511.1:c.121C>A | ENSP00000495691.1:p.His41Asn | |
| ENST00000224721.10:c.-15C>A | ENSP00000224721.8:n.-15C>A | |
| ENST00000299366.11:c.-15C>A | ENSP00000299366.8:n.-15C>A | |
| ENST00000398809.8:c.-15C>A | ENSP00000381789.5:n.-15C>A | |
| ENST00000398842.7:c.-42C>A | ENSP00000381822.4:n.-42C>A | |
| ENST00000461841.7:c.-15C>A | ENSP00000473454.2:n.-15C>A | |
| ENST00000616684.4:c.-15C>A | ENSP00000482036.2:n.-15C>A | |
| ENST00000622827.4:c.-15C>A | ENSP00000483211.1:n.-15C>A | |
| NM_001171930.1:c.-15C>A | NP_001165401.1:n.-15C>A | |
| NM_001171931.1:c.-15C>A | NP_001165402.1:n.-15C>A | |
| NM_001171932.1:c.-15C>A | NP_001165403.1:n.-15C>A | |
| NM_022124.5:c.-15C>A | NP_071407.4:n.-15C>A | |
| NM_052836.3:c.-15C>A | NP_443068.1:n.-15C>A | |
| XM_006717940.2:c.121C>A | XP_006718003.1:p.His41Asn | |
| XM_006717942.2:c.121C>A | XP_006718005.1:p.His41Asn | |
| XM_011540039.1:c.121C>A | XP_011538341.1:p.His41Asn | |
| XM_011540040.1:c.121C>A | XP_011538342.1:p.His41Asn | |
| XM_011540041.1:c.121C>A | XP_011538343.1:p.His41Asn | |
| XM_011540042.1:c.121C>A | XP_011538344.1:p.His41Asn | |
| XM_011540043.1:c.121C>A | XP_011538345.1:p.His41Asn | |
| XM_011540045.1:c.121C>A | XP_011538347.1:p.His41Asn | |
| XM_011540048.1:c.121C>A | XP_011538350.1:p.His41Asn | |
| XM_011540049.1:c.121C>A | XP_011538351.1:p.His41Asn | |
| XM_011540050.1:c.121C>A | XP_011538352.1:p.His41Asn | |
| XM_011540051.1:c.121C>A | XP_011538353.1:p.His41Asn | |
| XM_011540053.1:c.121C>A | XP_011538355.1:p.His41Asn | |
| XM_011540054.1:c.121C>A | XP_011538356.1:p.His41Asn | |
| XR_945796.1:n.364C>A | ||
| NM_001171930.2:c.-15C>A | NP_001165401.1:n.-15C>A | |
| NM_001171931.2:c.-15C>A | NP_001165402.1:n.-15C>A | |
| NM_022124.6:c.-15C>A MANE Select | NP_071407.4:n.-15C>A | |
| NM_052836.4:c.-15C>A | NP_443068.1:n.-15C>A | |
| NM_001171932.2:c.-15C>A | NP_001165403.1:n.-15C>A |