Linked Data
ClinVar Variation Id:
2593981
ClinVar RCV Id:
RCV003368829
dbSNP Id:
rs142592778
ExAC:
1:152281297 A / G
gnomAD v2:
1-152281297-A-G
gnomAD v3:
1-152308821-A-G
gnomAD v4:
1-152308821-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308821A>G , CM000663.2:g.152308821A>G | GRCh38 |
| NC_000001.10:g.152281297A>G , CM000663.1:g.152281297A>G | GRCh37 |
| NC_000001.9:g.150547921A>G | NCBI36 |
| NG_016190.1:g.21383T>C , LRG_1028:g.21383T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6065T>C MANE Select | ENSP00000357789.1:p.Ile2022Thr | |
| ENST00000368799.1:c.6065T>C | ENSP00000357789.1:p.Ile2022Thr | |
| NM_002016.1:c.6065T>C , LRG_1028t1:c.6065T>C | NP_002007.1:p.Ile2022Thr | |
| XM_011509329.1:c.6065T>C | XP_011507631.1:p.Ile2022Thr | |
| NM_002016.2:c.6065T>C MANE Select | NP_002007.1:p.Ile2022Thr |