Linked Data
ClinVar Variation Id:
297346
dbSNP Id:
rs140913043
ExAC:
1:43205670 A / G
gnomAD v2:
1-43205670-A-G
gnomAD v3:
1-42739999-A-G
gnomAD v4:
1-42739999-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42739999A>G , CM000663.2:g.42739999A>G | GRCh38 |
| NC_000001.10:g.43205670A>G , CM000663.1:g.43205670A>G | GRCh37 |
| NC_000001.9:g.42978257A>G | NCBI36 |
| NG_008993.1:g.5256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.65T>C MANE Select | ENSP00000296387.1:p.Ile22Thr | |
| ENST00000296387.5:c.65T>C | ENSP00000296387.1:p.Ile22Thr | |
| ENST00000372539.3:c.65T>C | ENSP00000361617.3:p.Ile22Thr | |
| ENST00000539749.5:c.65T>C | ENSP00000443229.1:p.Ile22Thr | |
| NM_001123395.1:c.65T>C | NP_001116867.1:p.Ile22Thr | |
| NM_001185117.1:c.65T>C | NP_001172046.1:p.Ile22Thr | |
| NM_148960.2:c.65T>C | NP_683763.2:p.Ile22Thr | |
| NM_001123395.2:c.65T>C | NP_001116867.1:p.Ile22Thr | |
| NM_148960.3:c.65T>C MANE Select | NP_683763.2:p.Ile22Thr | |
| NM_001185117.2:c.65T>C | NP_001172046.1:p.Ile22Thr |