Linked Data
ClinVar Variation Id:
2193034
ClinVar RCV Id:
RCV002643890
dbSNP Id:
rs1327618290
gnomAD v2:
10-121411248-C-G
gnomAD v4:
10-119651736-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651736C>G , CM000672.2:g.119651736C>G | GRCh38 |
| NC_000010.10:g.121411248C>G , CM000672.1:g.121411248C>G | GRCh37 |
| NC_000010.9:g.121401238C>G | NCBI36 |
| NG_016125.1:g.5367C>G , LRG_742:g.5367C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.61C>G MANE Select | ENSP00000358081.4:p.Pro21Ala | |
| ENST00000369085.7:c.61C>G | ENSP00000358081.3:p.Pro21Ala | |
| NM_004281.3:c.61C>G , LRG_742t1:c.61C>G | NP_004272.2:p.Pro21Ala | |
| XM_005270287.1:c.61C>G | XP_005270344.1:p.Pro21Ala | |
| XM_005270287.2:c.61C>G | XP_005270344.1:p.Pro21Ala | |
| NM_004281.4:c.61C>G MANE Select | NP_004272.2:p.Pro21Ala |