Linked Data
ClinVar Variation Id:
217552
ClinVar RCV Id:
RCV000201595
dbSNP Id:
rs758972393
ExAC:
3:93754255 A / G
gnomAD v2:
3-93754255-A-G
gnomAD v3:
3-94035411-A-G
gnomAD v4:
3-94035411-A-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.94035411A>G , CM000665.2:g.94035411A>G | GRCh38 |
| NC_000003.11:g.93754255A>G , CM000665.1:g.93754255A>G | GRCh37 |
| NC_000003.10:g.95236945A>G | NCBI36 |
| NG_017076.1:g.60273A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394222.8:c.461A>G MANE Select | ENSP00000377769.3:p.Asn154Ser | |
| ENST00000486562.2:c.140A>G | ENSP00000505366.1:p.Asn47Ser | |
| ENST00000679404.1:c.386A>G | ENSP00000505252.1:p.Asn129Ser | |
| ENST00000679587.1:c.461A>G | ENSP00000505396.1:p.Asn154Ser | |
| ENST00000679601.1:c.*313A>G | ENSP00000506200.1:n.*313A>G | |
| ENST00000679607.1:c.-377A>G | ENSP00000505148.1:n.-377A>G | |
| ENST00000679654.1:c.*69A>G | ENSP00000505178.1:n.*69A>G | |
| ENST00000679657.1:c.-32-13995A>G | ENSP00000505494.1:n.-32-13995A>G | |
| ENST00000679666.1:c.89A>G | ENSP00000506469.1:p.Asn30Ser | |
| ENST00000679739.1:c.72-1141A>G | ENSP00000506703.1:n.72-1141A>G | |
| ENST00000679872.1:c.410A>G | ENSP00000505607.1:p.Asn137Ser | |
| ENST00000680414.1:c.*233-1141A>G | ENSP00000506063.1:n.*233-1141A>G | |
| ENST00000680430.1:c.710A>G | ENSP00000504943.1:n.710A>G | |
| ENST00000680994.1:n.491A>G | ||
| ENST00000681013.1:c.381-1141A>G | ENSP00000506243.1:n.381-1141A>G | |
| ENST00000681247.1:c.60-1141A>G | ENSP00000505168.1:n.60-1141A>G | |
| ENST00000681380.1:c.461A>G | ENSP00000505402.1:p.Asn154Ser | |
| ENST00000681655.1:c.386A>G | ENSP00000505036.1:p.Asn129Ser | |
| ENST00000303097.11:c.140A>G | ENSP00000306225.7:p.Asn47Ser | |
| ENST00000335438.7:c.*313A>G | ENSP00000335400.3:n.*313A>G | |
| ENST00000394222.7:c.461A>G | ENSP00000377769.3:p.Asn154Ser | |
| ENST00000460371.5:c.131-1141A>G | ENSP00000417263.1:n.131-1141A>G | |
| ENST00000471138.5:c.461A>G | ENSP00000420780.1:p.Asn154Ser | |
| ENST00000486562.1:n.417A>G | ||
| ENST00000535334.5:c.152A>G | ENSP00000445145.1:p.Asn51Ser | |
| NM_001174150.1:c.461A>G | NP_001167621.1:p.Asn154Ser | |
| NM_001174151.1:c.152A>G | NP_001167622.1:p.Asn51Ser | |
| NM_144996.3:c.140A>G | NP_659433.2:p.Asn47Ser | |
| NM_182896.2:c.461A>G | NP_878899.1:p.Asn154Ser | |
| NR_033427.1:n.496A>G | ||
| XM_006713531.2:c.416A>G | XP_006713594.1:p.Asn139Ser | |
| XM_006713532.2:c.416A>G | XP_006713595.1:p.Asn139Ser | |
| XM_011512532.1:c.425A>G | XP_011510834.1:p.Asn142Ser | |
| XM_011512533.1:c.425A>G | XP_011510835.1:p.Asn142Ser | |
| XM_011512534.1:c.416A>G | XP_011510836.1:p.Asn139Ser | |
| XM_011512535.1:c.386A>G | XP_011510837.1:p.Asn129Ser | |
| XM_011512536.1:c.152A>G | XP_011510838.1:p.Asn51Ser | |
| NM_001321328.1:c.416A>G | NP_001308257.1:p.Asn139Ser | |
| NR_135621.1:n.492A>G | ||
| XM_006713532.3:c.416A>G | XP_006713595.1:p.Asn139Ser | |
| XM_011512532.2:c.425A>G | XP_011510834.1:p.Asn142Ser | |
| XM_011512533.2:c.425A>G | XP_011510835.1:p.Asn142Ser | |
| XM_011512534.2:c.416A>G | XP_011510836.1:p.Asn139Ser | |
| XM_011512535.2:c.386A>G | XP_011510837.1:p.Asn129Ser | |
| XM_017005853.1:c.152A>G | XP_016861342.1:p.Asn51Ser | |
| NM_001174150.2:c.461A>G MANE Select | NP_001167621.1:p.Asn154Ser | |
| NM_001321328.2:c.416A>G | NP_001308257.1:p.Asn139Ser | |
| NM_144996.4:c.140A>G | NP_659433.2:p.Asn47Ser | |
| NM_182896.3:c.461A>G | NP_878899.1:p.Asn154Ser | |
| NR_033427.2:n.480A>G | ||
| NR_135621.2:n.476A>G | ||
| NM_001174151.2:c.152A>G | NP_001167622.1:p.Asn51Ser |