Linked Data
ClinVar Variation Id:
975009
dbSNP Id:
rs369264588
ExAC:
11:67815434 G / A
gnomAD v2:
11-67815434-G-A
gnomAD v3:
11-68047967-G-A
gnomAD v4:
11-68047967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047967G>A , CM000673.2:g.68047967G>A | GRCh38 |
| NC_000011.9:g.67815434G>A , CM000673.1:g.67815434G>A | GRCh37 |
| NC_000011.8:g.67572010G>A | NCBI36 |
| NG_007878.1:g.13952G>A , LRG_115:g.13952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.174G>A | ||
| ENST00000698254.1:c.1078G>A | ENSP00000513629.1:p.Asp360Asn | |
| ENST00000698255.1:c.1498G>A | ENSP00000513630.1:p.Asp500Asn | |
| ENST00000698256.1:c.1015G>A | ||
| ENST00000698257.1:n.967G>A | ||
| ENST00000698258.1:n.684G>A | ||
| ENST00000698259.1:n.450G>A | ||
| ENST00000265686.8:c.1549G>A MANE Select | ENSP00000265686.3:p.Asp517Asn | |
| ENST00000265686.7:c.1549G>A | ENSP00000265686.3:p.Asp517Asn | |
| ENST00000525516.1:n.343G>A | ||
| ENST00000525724.5:n.861G>A | ||
| ENST00000528981.5:c.701G>A | ||
| ENST00000532635.5:c.901G>A | ENSP00000434407.1:p.Asp301Asn | |
| ENST00000533005.5:n.662G>A | ||
| NM_006019.3:c.1549G>A | NP_006010.2:p.Asp517Asn | |
| NM_006053.3:c.901G>A | NP_006044.1:p.Asp301Asn | |
| XM_005273709.2:c.1549G>A | XP_005273766.1:p.Asp517Asn | |
| XM_011544726.1:c.1549G>A | XP_011543028.1:p.Asp517Asn | |
| XM_011544727.1:c.1549G>A | XP_011543029.1:p.Asp517Asn | |
| XM_011544728.1:c.1549G>A | XP_011543030.1:p.Asp517Asn | |
| XR_949754.1:n.1553G>A | ||
| NM_001351059.1:c.655G>A | NP_001337988.1:p.Asp219Asn | |
| XM_024448320.1:c.1642G>A | XP_024304088.1:p.Asp548Asn | |
| XM_024448321.1:c.1642G>A | XP_024304089.1:p.Asp548Asn | |
| XM_024448322.1:c.1642G>A | XP_024304090.1:p.Asp548Asn | |
| XM_024448323.1:c.1642G>A | XP_024304091.1:p.Asp548Asn | |
| XM_024448324.1:c.1642G>A | XP_024304092.1:p.Asp548Asn | |
| XR_001747721.2:n.1673G>A | ||
| XR_001747722.1:n.1686G>A | ||
| XR_001747723.2:n.1686G>A | ||
| XR_002957115.1:n.1764G>A | ||
| NM_006019.4:c.1549G>A MANE Select | NP_006010.2:p.Asp517Asn | |
| NM_001351059.2:c.655G>A | NP_001337988.1:p.Asp219Asn | |
| NM_006053.4:c.901G>A | NP_006044.1:p.Asp301Asn |