Linked Data
dbSNP Id:
rs778860532
ExAC:
2:44121704 T / C
gnomAD v2:
2-44121704-T-C
gnomAD v3:
2-43894565-T-C
gnomAD v4:
2-43894565-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894565T>C , CM000664.2:g.43894565T>C | GRCh38 |
| NC_000002.11:g.44121704T>C , CM000664.1:g.44121704T>C | GRCh37 |
| NC_000002.10:g.43975208T>C | NCBI36 |
| NG_008247.1:g.106441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.595A>G | ||
| ENST00000681993.1:n.1517A>G | ||
| ENST00000682154.1:n.1399A>G | ||
| ENST00000682303.1:c.*3676A>G | ENSP00000508325.1:n.*3676A>G | |
| ENST00000682308.1:c.3890A>G | ENSP00000507056.1:p.Asn1297Ser | |
| ENST00000682434.1:n.3520A>G | ||
| ENST00000682480.1:c.3983A>G | ENSP00000508344.1:p.Asn1328Ser | |
| ENST00000682546.1:c.3962A>G | ENSP00000508188.1:p.Asn1321Ser | |
| ENST00000682585.1:c.*93A>G | ENSP00000506885.1:n.*93A>G | |
| ENST00000682607.1:c.2708A>G | ||
| ENST00000682612.1:c.752+2069A>G | ||
| ENST00000682696.1:c.65A>G | ENSP00000508411.1:p.Asn22Ser | |
| ENST00000682779.1:c.3956A>G | ENSP00000507947.1:p.Asn1319Ser | |
| ENST00000682885.1:c.3920A>G | ENSP00000508036.1:p.Asn1307Ser | |
| ENST00000682933.1:n.4165A>G | ||
| ENST00000683002.1:c.817A>G | ||
| ENST00000683072.1:n.4549A>G | ||
| ENST00000683080.1:n.1584A>G | ||
| ENST00000683096.1:n.2406A>G | ||
| ENST00000683125.1:c.4073A>G | ENSP00000507939.1:p.Asn1358Ser | |
| ENST00000683213.1:c.3968A>G | ENSP00000507751.1:p.Asn1323Ser | |
| ENST00000683220.1:c.3995A>G | ENSP00000507151.1:p.Asn1332Ser | |
| ENST00000683329.1:n.4768A>G | ||
| ENST00000683346.1:c.*3840A>G | ENSP00000507458.1:n.*3840A>G | |
| ENST00000683409.1:n.2497A>G | ||
| ENST00000683459.1:n.4552A>G | ||
| ENST00000683590.1:c.3638A>G | ENSP00000506820.1:p.Asn1213Ser | |
| ENST00000683623.1:c.3872A>G | ENSP00000507702.1:p.Asn1291Ser | |
| ENST00000683796.1:c.*3762A>G | ENSP00000508221.1:n.*3762A>G | |
| ENST00000683833.1:c.3881A>G | ENSP00000506852.1:p.Asn1294Ser | |
| ENST00000683994.1:c.*78A>G | ENSP00000507181.1:n.*78A>G | |
| ENST00000684290.1:c.*1426A>G | ENSP00000507243.1:n.*1426A>G | |
| ENST00000684306.1:c.*3878A>G | ENSP00000508384.1:n.*3878A>G | |
| ENST00000684383.1:c.*3603A>G | ENSP00000506863.1:n.*3603A>G | |
| ENST00000684418.1:n.5146A>G | ||
| ENST00000684433.1:n.349A>G | ||
| ENST00000684454.1:n.7829A>G | ||
| ENST00000684619.1:c.*3837A>G | ENSP00000508088.1:n.*3837A>G | |
| ENST00000684743.1:n.6710A>G | ||
| ENST00000260665.12:c.3965A>G MANE Select | ENSP00000260665.7:p.Asn1322Ser | |
| ENST00000260665.11:c.3965A>G | ENSP00000260665.7:p.Asn1322Ser | |
| ENST00000419884.5:c.206A>G | ENSP00000414207.1:p.Asn69Ser | |
| ENST00000463456.5:n.3008A>G | ||
| NM_133259.3:c.3965A>G | NP_573566.2:p.Asn1322Ser | |
| XM_006711915.2:c.3887A>G | XP_006711978.1:p.Asn1296Ser | |
| XM_011532473.1:c.3890A>G | XP_011530775.1:p.Asn1297Ser | |
| XM_011532474.1:c.3965A>G | XP_011530776.1:p.Asn1322Ser | |
| XM_017003117.1:c.3812A>G | XP_016858606.1:p.Asn1271Ser | |
| XR_002958896.1:n.4007A>G | ||
| NM_133259.4:c.3965A>G MANE Select | NP_573566.2:p.Asn1322Ser |