Linked Data
dbSNP Id:
rs576734904
ExAC:
3:183855846 C / G
gnomAD v2:
3-183855846-C-G
gnomAD v4:
3-184138058-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138058C>G , CM000665.2:g.184138058C>G | GRCh38 |
| NC_000003.11:g.183855846C>G , CM000665.1:g.183855846C>G | GRCh37 |
| NC_000003.10:g.185338540C>G | NCBI36 |
| NG_015826.1:g.8037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.690C>G | ||
| ENST00000468748.7:n.650C>G | ||
| ENST00000484154.2:n.1288C>G | ||
| ENST00000491008.6:n.1415C>G | ||
| ENST00000492226.2:n.664C>G | ||
| ENST00000492773.6:c.399C>G | ||
| ENST00000647636.1:c.667C>G | ENSP00000497505.1:p.Arg223Gly | |
| ENST00000647909.1:c.691C>G | ENSP00000498164.1:p.Arg231Gly | |
| ENST00000648145.1:c.435C>G | ||
| ENST00000648189.1:c.417C>G | ||
| ENST00000648256.1:c.616C>G | ENSP00000497356.1:p.Arg206Gly | |
| ENST00000648314.1:c.667C>G | ENSP00000496920.1:p.Arg223Gly | |
| ENST00000648599.1:c.667C>G | ENSP00000497159.1:p.Arg223Gly | |
| ENST00000648630.1:c.661C>G | ENSP00000497887.1:p.Arg221Gly | |
| ENST00000648682.1:c.667C>G | ENSP00000498185.1:p.Arg223Gly | |
| ENST00000648882.1:c.*493C>G | ENSP00000497603.1:n.*493C>G | |
| ENST00000648890.1:c.667C>G | ENSP00000497503.1:p.Arg223Gly | |
| ENST00000648915.2:c.667C>G MANE Select | ENSP00000497160.1:p.Arg223Gly | |
| ENST00000649545.1:c.401C>G | ||
| ENST00000649688.1:c.667C>G | ENSP00000497097.1:p.Arg223Gly | |
| ENST00000649814.1:n.716C>G | ||
| ENST00000650270.1:c.534C>G | ||
| ENST00000273783.7:c.667C>G | ENSP00000273783.3:p.Arg223Gly | |
| ENST00000432982.5:c.245+1383C>G | ||
| ENST00000444495.1:c.667C>G | ENSP00000409142.1:p.Arg223Gly | |
| ENST00000468748.5:n.120C>G | ||
| ENST00000481054.5:n.668C>G | ||
| ENST00000491008.5:n.631C>G | ||
| ENST00000491144.5:n.1107C>G | ||
| NM_003907.2:c.667C>G | NP_003898.2:p.Arg223Gly | |
| XR_924208.1:n.1618C>G | ||
| NM_003907.3:c.667C>G MANE Select | NP_003898.2:p.Arg223Gly | |
| XM_011513266.3:c.-235C>G | XP_011511568.1:n.-235C>G | |
| XR_001740352.2:n.1030C>G | ||
| XR_001740353.2:n.1030C>G | ||
| XR_924208.2:n.1030C>G |