Linked Data
ClinVar Variation Id:
846911
ClinVar RCV Id:
RCV001050335
dbSNP Id:
rs146053586
ExAC:
21:35742948 T / G
gnomAD v2:
21-35742948-T-G
gnomAD v3:
21-34370649-T-G
gnomAD v4:
21-34370649-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370649T>G , CM000683.2:g.34370649T>G | GRCh38 |
| NC_000021.8:g.35742948T>G , CM000683.1:g.35742948T>G | GRCh37 |
| NC_000021.7:g.34664818T>G | NCBI36 |
| NG_008804.1:g.11626T>G , LRG_291:g.11626T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.171T>G MANE Select | ENSP00000290310.2:p.Ile57Met | |
| ENST00000290310.3:c.171T>G | ENSP00000290310.2:p.Ile57Met | |
| NM_172201.1:c.171T>G , LRG_291t1:c.171T>G | NP_751951.1:p.Ile57Met | |
| XR_937683.1:n.672A>C | ||
| XR_937684.1:n.672A>C | ||
| XR_001755012.2:n.793A>C | ||
| XR_001755013.2:n.672A>C | ||
| XR_937683.2:n.672A>C | ||
| NM_172201.2:c.171T>G MANE Select | NP_751951.1:p.Ile57Met |