Linked Data
ClinVar Variation Id:
97819
dbSNP Id:
rs104895469
ExAC:
16:50744892 A / C
gnomAD v2:
16-50744892-A-C
gnomAD v3:
16-50710981-A-C
gnomAD v4:
16-50710981-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50710981A>C , CM000678.2:g.50710981A>C | GRCh38 |
| NC_000016.9:g.50744892A>C , CM000678.1:g.50744892A>C | GRCh37 |
| NC_000016.8:g.49302393A>C | NCBI36 |
| NG_007508.1:g.18843A>C , LRG_177:g.18843A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.989A>C | ENSP00000493088.1:p.Asp330Ala | |
| ENST00000646677.2:c.989A>C | ENSP00000496533.1:p.Asp330Ala | |
| ENST00000641284.1:c.989A>C | ENSP00000493088.1:p.Asp330Ala | |
| ENST00000646677.1:c.989A>C | ENSP00000496533.1:p.Asp330Ala | |
| ENST00000647318.2:c.989A>C MANE Select | ENSP00000495993.1:p.Asp330Ala | |
| ENST00000300589.6:c.1070A>C | ENSP00000300589.2:p.Asp357Ala | |
| NM_001293557.1:c.989A>C | NP_001280486.1:p.Asp330Ala | |
| NM_022162.2:c.1070A>C | NP_071445.1:p.Asp357Ala | |
| XM_005256084.2:c.989A>C | XP_005256141.1:p.Asp330Ala | |
| XM_006721242.2:c.989A>C | XP_006721305.1:p.Asp330Ala | |
| XM_006721243.2:c.989A>C | XP_006721306.1:p.Asp330Ala | |
| XM_011523257.1:c.566A>C | XP_011521559.1:p.Asp189Ala | |
| XM_011523258.1:c.566A>C | XP_011521560.1:p.Asp189Ala | |
| XM_011523259.1:c.404A>C | XP_011521561.1:p.Asp135Ala | |
| XM_011523260.1:c.989A>C | XP_011521562.1:p.Asp330Ala | |
| XM_011523261.1:c.989A>C | XP_011521563.1:p.Asp330Ala | |
| XR_429725.2:n.1079A>C | ||
| XR_429726.2:n.1079A>C | ||
| XR_933387.1:n.1079A>C | ||
| XM_005256084.4:c.989A>C | XP_005256141.1:p.Asp330Ala | |
| XM_006721242.4:c.989A>C | XP_006721305.1:p.Asp330Ala | |
| XM_006721243.4:c.989A>C | XP_006721306.1:p.Asp330Ala | |
| XM_011523259.2:c.404A>C | XP_011521561.1:p.Asp135Ala | |
| XM_011523260.3:c.989A>C | XP_011521562.1:p.Asp330Ala | |
| XM_011523261.2:c.989A>C | XP_011521563.1:p.Asp330Ala | |
| XM_017023535.1:c.497A>C | XP_016879024.1:p.Asp166Ala | |
| XM_017023536.1:c.404A>C | XP_016879025.1:p.Asp135Ala | |
| XM_017023537.1:c.404A>C | XP_016879026.1:p.Asp135Ala | |
| XM_017023538.1:c.404A>C | XP_016879027.1:p.Asp135Ala | |
| XR_429725.3:n.1032A>C | ||
| XR_429726.3:n.1032A>C | ||
| XR_933387.2:n.1032A>C | ||
| NM_001293557.2:c.989A>C | NP_001280486.1:p.Asp330Ala | |
| NM_001370466.1:c.989A>C MANE Select | NP_001357395.1:p.Asp330Ala | |
| NM_022162.3:c.1070A>C | NP_071445.1:p.Asp357Ala | |
| NR_163434.1:n.1054A>C |