Linked Data
ClinVar Variation Id:
294200
dbSNP Id:
rs114135070
ExAC:
1:186051998 T / C
gnomAD v2:
1-186051998-T-C
gnomAD v3:
1-186082866-T-C
gnomAD v4:
1-186082866-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186082866T>C , CM000663.2:g.186082866T>C | GRCh38 |
| NC_000001.10:g.186051998T>C , CM000663.1:g.186051998T>C | GRCh37 |
| NC_000001.9:g.184318621T>C | NCBI36 |
| NG_011841.1:g.353316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.8789T>C MANE Select | ENSP00000271588.4:p.Ile2930Thr | |
| ENST00000271588.8:c.8789T>C | ENSP00000271588.4:p.Ile2930Thr | |
| NM_031935.2:c.8789T>C | NP_114141.2:p.Ile2930Thr | |
| XM_011510037.1:c.8789T>C | XP_011508339.1:p.Ile2930Thr | |
| XM_011510038.1:c.8789T>C | XP_011508340.1:p.Ile2930Thr | |
| XM_011510039.1:c.8789T>C | XP_011508341.1:p.Ile2930Thr | |
| XM_011510040.1:c.8789T>C | XP_011508342.1:p.Ile2930Thr | |
| XM_011510041.1:c.8789T>C | XP_011508343.1:p.Ile2930Thr | |
| XM_011510038.3:c.8789T>C | XP_011508340.1:p.Ile2930Thr | |
| XM_011510041.3:c.8789T>C | XP_011508343.1:p.Ile2930Thr | |
| XM_017002437.1:c.6812T>C | XP_016857926.1:p.Ile2271Thr | |
| XM_024450118.1:c.8789T>C | XP_024305886.1:p.Ile2930Thr | |
| NM_031935.3:c.8789T>C MANE Select | NP_114141.2:p.Ile2930Thr |