Linked Data
ClinVar Variation Id:
294300
dbSNP Id:
rs538516291
ExAC:
1:186143665 T / C
gnomAD v2:
1-186143665-T-C
gnomAD v3:
1-186174533-T-C
gnomAD v4:
1-186174533-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174533T>C , CM000663.2:g.186174533T>C | GRCh38 |
| NC_000001.10:g.186143665T>C , CM000663.1:g.186143665T>C | GRCh37 |
| NC_000001.9:g.184410288T>C | NCBI36 |
| NG_011841.1:g.444983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15834T>C MANE Select | ENSP00000271588.4:p.Asp5278= | |
| ENST00000271588.8:c.15834T>C | ENSP00000271588.4:p.Asp5278= | |
| ENST00000414277.1:c.210T>C | ENSP00000406205.1:p.Asp70= | |
| NM_031935.2:c.15834T>C | NP_114141.2:p.Asp5278= | |
| XM_011510037.1:c.15549T>C | XP_011508339.1:p.Asp5183= | |
| XM_011510038.1:c.15834T>C | XP_011508340.1:p.Asp5278= | |
| XM_011510038.3:c.15834T>C | XP_011508340.1:p.Asp5278= | |
| XM_017002437.1:c.13857T>C | XP_016857926.1:p.Asp4619= | |
| NM_031935.3:c.15834T>C MANE Select | NP_114141.2:p.Asp5278= |