Linked Data
ClinVar Variation Id:
2002541
ClinVar RCV Id:
RCV002832999
dbSNP Id:
rs2040549304
gnomAD v4:
21-44292323-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292323C>G , CM000683.2:g.44292323C>G | GRCh38 |
| NC_000021.8:g.45712206C>G , CM000683.1:g.45712206C>G | GRCh37 |
| NC_000021.7:g.44536634C>G | NCBI36 |
| NG_009556.1:g.11444C>G , LRG_18:g.11444C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1017C>G MANE Select | ENSP00000291582.5:p.Ser339Arg | |
| ENST00000291582.5:c.1017C>G | ENSP00000291582.5:p.Ser339Arg | |
| ENST00000337909.5:n.478C>G | ||
| ENST00000397994.8:n.478C>G | ||
| ENST00000527919.5:n.1747C>G | ||
| ENST00000530812.5:n.2764C>G | ||
| NM_000383.3:c.1017C>G | NP_000374.1:p.Ser339Arg | |
| XM_011529551.1:c.1014C>G | XP_011527853.1:p.Ser338Arg | |
| NM_000383.4:c.1017C>G MANE Select | NP_000374.1:p.Ser339Arg |