Linked Data
dbSNP Id:
rs2971409
gnomAD v2:
3-183855778-A-G
gnomAD v3:
3-184137990-A-G
gnomAD v4:
3-184137990-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137990A>G , CM000665.2:g.184137990A>G | GRCh38 |
| NC_000003.11:g.183855778A>G , CM000665.1:g.183855778A>G | GRCh37 |
| NC_000003.10:g.185338472A>G | NCBI36 |
| NG_015826.1:g.7969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.622A>G | ||
| ENST00000468748.7:n.582A>G | ||
| ENST00000484154.2:n.1220A>G | ||
| ENST00000491008.6:n.1347A>G | ||
| ENST00000492226.2:n.596A>G | ||
| ENST00000492773.6:c.331A>G | ||
| ENST00000647636.1:c.599A>G | ENSP00000497505.1:p.Asn200Ser | |
| ENST00000647909.1:c.623A>G | ENSP00000498164.1:p.Asn208Ser | |
| ENST00000648145.1:c.367A>G | ||
| ENST00000648189.1:c.349A>G | ||
| ENST00000648256.1:c.548A>G | ENSP00000497356.1:p.Asn183Ser | |
| ENST00000648314.1:c.599A>G | ENSP00000496920.1:p.Asn200Ser | |
| ENST00000648599.1:c.599A>G | ENSP00000497159.1:p.Asn200Ser | |
| ENST00000648630.1:c.593A>G | ENSP00000497887.1:p.Asn198Ser | |
| ENST00000648682.1:c.599A>G | ENSP00000498185.1:p.Asn200Ser | |
| ENST00000648882.1:c.*425A>G | ENSP00000497603.1:n.*425A>G | |
| ENST00000648890.1:c.599A>G | ENSP00000497503.1:p.Asn200Ser | |
| ENST00000648915.2:c.599A>G MANE Select | ENSP00000497160.1:p.Asn200Ser | |
| ENST00000649545.1:c.333A>G | ||
| ENST00000649688.1:c.599A>G | ENSP00000497097.1:p.Asn200Ser | |
| ENST00000649814.1:n.648A>G | ||
| ENST00000650270.1:c.466A>G | ||
| ENST00000273783.7:c.599A>G | ENSP00000273783.3:p.Asn200Ser | |
| ENST00000432982.5:c.245+1315A>G | ||
| ENST00000444495.1:c.599A>G | ENSP00000409142.1:p.Asn200Ser | |
| ENST00000468748.5:n.52A>G | ||
| ENST00000481054.5:n.600A>G | ||
| ENST00000491008.5:n.563A>G | ||
| ENST00000491144.5:n.1039A>G | ||
| ENST00000498831.1:n.554A>G | ||
| NM_003907.2:c.599A>G | NP_003898.2:p.Asn200Ser | |
| XR_924208.1:n.1550A>G | ||
| NM_003907.3:c.599A>G MANE Select | NP_003898.2:p.Asn200Ser | |
| XM_011513266.3:c.-303A>G | XP_011511568.1:n.-303A>G | |
| XR_001740352.2:n.962A>G | ||
| XR_001740353.2:n.962A>G | ||
| XR_924208.2:n.962A>G |