Linked Data
ClinVar Variation Id:
2018599
ClinVar RCV Id:
RCV002862104
dbSNP Id:
rs750335577
ExAC:
21:33039673 T / G
gnomAD v2:
21-33039673-T-G
gnomAD v4:
21-31667360-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667360T>G , CM000683.2:g.31667360T>G | GRCh38 |
| NC_000021.8:g.33039673T>G , CM000683.1:g.33039673T>G | GRCh37 |
| NC_000021.7:g.31961544T>G | NCBI36 |
| NG_008689.1:g.12739T>G , LRG_652:g.12739T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.342T>G MANE Select | ENSP00000270142.7:p.Ile114Met | |
| ENST00000270142.10:c.342T>G | ENSP00000270142.6:p.Ile114Met | |
| ENST00000389995.4:c.285T>G | ENSP00000374645.4:p.Ile95Met | |
| ENST00000470944.1:n.1270T>G | ||
| NM_000454.4:c.342T>G , LRG_652t1:c.342T>G | NP_000445.1:p.Ile114Met | |
| NM_000454.5:c.342T>G MANE Select | NP_000445.1:p.Ile114Met |