Linked Data
ClinVar Variation Id:
397505
dbSNP Id:
rs1060499649
gnomAD v2:
9-71841091-G-A
gnomAD v4:
9-69226175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69226175G>A , CM000671.2:g.69226175G>A | GRCh38 |
| NC_000009.11:g.71841091G>A , CM000671.1:g.71841091G>A | GRCh37 |
| NC_000009.10:g.71030911G>A | NCBI36 |
| NG_016342.1:g.109868G>A | |
| NG_016342.2:g.130269G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.1210G>A | ENSP00000345893.4:p.Asp404Asn | |
| ENST00000377245.9:c.1210G>A MANE Select | ENSP00000366453.4:p.Asp404Asn | |
| ENST00000535702.6:c.1222G>A | ENSP00000442090.1:p.Asp408Asn | |
| ENST00000539225.2:c.1303G>A | ENSP00000438262.1:p.Asp435Asn | |
| ENST00000636247.1:n.1289G>A | ||
| ENST00000636438.1:c.1387G>A | ENSP00000489860.1:p.Asp463Asn | |
| ENST00000642889.1:c.1597G>A | ENSP00000493780.1:p.Asp533Asn | |
| ENST00000643352.1:c.*1398G>A | ENSP00000496488.1:n.*1398G>A | |
| ENST00000645088.1:c.*1517G>A | ENSP00000495447.1:n.*1517G>A | |
| ENST00000647986.1:c.1141G>A | ENSP00000496877.1:p.Asp381Asn | |
| ENST00000648087.1:n.1527G>A | ||
| ENST00000648153.1:n.353G>A | ||
| ENST00000649114.1:c.1210G>A | ENSP00000497328.1:p.Asp404Asn | |
| ENST00000649134.1:c.1222G>A | ENSP00000498068.1:p.Asp408Asn | |
| ENST00000649783.1:n.1234G>A | ||
| ENST00000649943.1:c.1210G>A | ENSP00000497539.1:p.Asp404Asn | |
| ENST00000650084.1:c.1213G>A | ENSP00000497861.1:p.Asp405Asn | |
| ENST00000650333.1:c.1141G>A | ENSP00000496791.1:p.Asp381Asn | |
| ENST00000650460.1:c.483G>A | ||
| ENST00000650522.1:n.977-3009G>A | ||
| ENST00000265384.11:c.1210G>A | ENSP00000265384.7:p.Asp404Asn | |
| ENST00000348208.8:c.1210G>A | ENSP00000345893.4:p.Asp404Asn | |
| ENST00000377245.8:c.1210G>A | ENSP00000366453.4:p.Asp404Asn | |
| ENST00000453658.6:c.1141G>A | ENSP00000392178.2:p.Asp381Asn | |
| ENST00000535702.5:c.1222G>A | ENSP00000442090.1:p.Asp408Asn | |
| ENST00000539225.1:c.1303G>A | ENSP00000438262.1:p.Asp435Asn | |
| NM_001170414.2:c.1141G>A | NP_001163885.1:p.Asp381Asn | |
| NM_001170415.1:c.1222G>A | NP_001163886.1:p.Asp408Asn | |
| NM_001170416.1:c.1303G>A | NP_001163887.1:p.Asp435Asn | |
| NM_001170630.1:c.1210G>A | NP_001164101.1:p.Asp404Asn | |
| NM_004817.3:c.1210G>A | NP_004808.2:p.Asp404Asn | |
| NM_201629.3:c.1210G>A | NP_963923.1:p.Asp404Asn | |
| XM_005252314.1:c.1222G>A | XP_005252371.1:p.Asp408Asn | |
| XM_006717324.2:c.1204G>A | XP_006717387.1:p.Asp402Asn | |
| XM_011519204.1:c.1141G>A | XP_011517506.1:p.Asp381Asn | |
| XM_011519205.1:c.1141G>A | XP_011517507.1:p.Asp381Asn | |
| XM_011519206.1:c.1141G>A | XP_011517508.1:p.Asp381Asn | |
| XM_011519207.1:c.1141G>A | XP_011517509.1:p.Asp381Asn | |
| XM_011519208.1:c.1141G>A | XP_011517510.1:p.Asp381Asn | |
| XM_011519209.1:c.1141G>A | XP_011517511.1:p.Asp381Asn | |
| NM_004817.4:c.1210G>A MANE Select | NP_004808.2:p.Asp404Asn | |
| XM_005252314.2:c.1222G>A | XP_005252371.1:p.Asp408Asn | |
| XM_011519206.2:c.1141G>A | XP_011517508.1:p.Asp381Asn | |
| XM_011519207.2:c.1141G>A | XP_011517509.1:p.Asp381Asn | |
| XM_011519208.2:c.1141G>A | XP_011517510.1:p.Asp381Asn | |
| XM_011519209.2:c.1141G>A | XP_011517511.1:p.Asp381Asn | |
| XM_017015327.2:c.1210G>A | XP_016870816.1:p.Asp404Asn | |
| XM_017015328.1:c.1222G>A | XP_016870817.1:p.Asp408Asn | |
| NM_001170416.2:c.1303G>A | NP_001163887.1:p.Asp435Asn | |
| NM_001369870.1:c.1141G>A | NP_001356799.1:p.Asp381Asn | |
| NM_001369871.1:c.1141G>A | NP_001356800.1:p.Asp381Asn | |
| NM_001369872.1:c.1210G>A | NP_001356801.1:p.Asp404Asn | |
| NM_001369873.1:c.1210G>A | NP_001356802.1:p.Asp404Asn | |
| NM_001369874.1:c.1222G>A | NP_001356803.1:p.Asp408Asn | |
| NM_001369875.1:c.1222G>A | NP_001356804.1:p.Asp408Asn |