Linked Data
ClinVar Variation Id:
853121
dbSNP Id:
rs142234912
ExAC:
17:27064932 A / G
gnomAD v2:
17-27064932-A-G
gnomAD v3:
17-28737914-A-G
gnomAD v4:
17-28737914-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28737914A>G , CM000679.2:g.28737914A>G | GRCh38 |
| NC_000017.10:g.27064932A>G , CM000679.1:g.27064932A>G | GRCh37 |
| NC_000017.9:g.24089059A>G | NCBI36 |
| NG_012263.1:g.14101A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.985A>G MANE Select | ENSP00000268766.6:p.Met329Val | |
| ENST00000268766.10:c.985A>G | ENSP00000268766.6:p.Met329Val | |
| ENST00000543014.1:c.1145A>G | ENSP00000465859.1:p.Asn382Ser | |
| ENST00000592510.1:c.545A>G | ||
| NM_178170.2:c.985A>G | NP_835464.1:p.Met329Val | |
| XM_011524638.1:c.1096A>G | XP_011522940.1:p.Met366Val | |
| XM_011524639.1:c.1069A>G | XP_011522941.1:p.Met357Val | |
| XM_011524640.1:c.1057A>G | XP_011522942.1:p.Met353Val | |
| XM_011524641.1:c.952A>G | XP_011522943.1:p.Met318Val | |
| XM_011524642.1:c.952A>G | XP_011522944.1:p.Met318Val | |
| XM_011524643.1:c.952A>G | XP_011522945.1:p.Met318Val | |
| XM_011524644.1:c.775A>G | XP_011522946.1:p.Met259Val | |
| XM_011524645.1:c.1223A>G | XP_011522947.1:p.Asn408Ser | |
| XR_934448.1:n.1273A>G | ||
| NM_178170.3:c.985A>G MANE Select | NP_835464.1:p.Met329Val | |
| XM_011524638.3:c.1096A>G | XP_011522940.1:p.Met366Val | |
| XM_011524640.3:c.1057A>G | XP_011522942.1:p.Met353Val | |
| XM_017024499.2:c.1024A>G | XP_016879988.1:p.Met342Val | |
| XM_017024500.2:c.907A>G | XP_016879989.1:p.Met303Val | |
| XM_017024501.1:c.1217A>G | XP_016879990.1:p.Asn406Ser | |
| XR_001752497.2:n.1228A>G |