Linked Data
ClinVar Variation Id:
356869
dbSNP Id:
rs745593101
ExAC:
6:43484915 A / G
gnomAD v2:
6-43484915-A-G
gnomAD v3:
6-43517177-A-G
gnomAD v4:
6-43517177-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43517177A>G , CM000668.2:g.43517177A>G | GRCh38 |
| NC_000006.11:g.43484915A>G , CM000668.1:g.43484915A>G | GRCh37 |
| NC_000006.10:g.43592893A>G | NCBI36 |
| NG_028283.1:g.5139A>G | |
| NG_028283.3:g.12476A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.68A>G | ENSP00000496683.1:p.Asn23Ser | |
| ENST00000642195.1:c.68A>G MANE Select | ENSP00000496044.1:p.Asn23Ser | |
| ENST00000643341.1:c.68A>G | ENSP00000496018.1:p.Asn23Ser | |
| ENST00000643799.1:c.68A>G | ENSP00000494529.1:p.Asn23Ser | |
| ENST00000645141.1:c.68A>G | ENSP00000496755.1:p.Asn23Ser | |
| ENST00000646188.1:c.-96-129A>G | ENSP00000496001.1:n.-96-129A>G | |
| ENST00000646433.1:c.68A>G | ENSP00000494368.1:p.Asn23Ser | |
| ENST00000646700.1:c.68A>G | ENSP00000495521.1:p.Asn23Ser | |
| ENST00000304004.7:c.68A>G | ENSP00000307212.3:p.Asn23Ser | |
| ENST00000372344.6:c.68A>G | ENSP00000361419.2:p.Asn23Ser | |
| ENST00000372389.7:c.68A>G | ENSP00000361465.3:p.Asn23Ser | |
| ENST00000423780.1:c.66A>G | ||
| ENST00000428025.6:c.-96-129A>G | ENSP00000395401.2:n.-96-129A>G | |
| ENST00000455605.2:n.45A>G | ||
| ENST00000481352.6:n.124A>G | ||
| ENST00000488601.6:n.80A>G | ||
| ENST00000512472.5:n.95A>G | ||
| NM_203290.2:c.68A>G | NP_976035.1:p.Asn23Ser | |
| XM_005249491.1:c.68A>G | XP_005249548.1:p.Asn23Ser | |
| XM_011515000.1:c.68A>G | XP_011513302.1:p.Asn23Ser | |
| NM_001318876.1:c.68A>G | NP_001305805.1:p.Asn23Ser | |
| NM_001363658.1:c.68A>G | NP_001350587.1:p.Asn23Ser | |
| NM_203290.3:c.68A>G | NP_976035.1:p.Asn23Ser | |
| NM_203290.4:c.68A>G MANE Select | NP_976035.1:p.Asn23Ser | |
| NM_001363658.2:c.68A>G | NP_001350587.1:p.Asn23Ser | |
| NM_001318876.2:c.68A>G | NP_001305805.1:p.Asn23Ser |