Linked Data
ClinVar Variation Id:
297249
ClinVar RCV Id:
RCV000299416
dbSNP Id:
rs559058511
gnomAD v2:
1-40562983-C-G
gnomAD v3:
1-40097311-C-G
gnomAD v4:
1-40097311-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097311C>G , CM000663.2:g.40097311C>G | GRCh38 |
| NC_000001.10:g.40562983C>G , CM000663.1:g.40562983C>G | GRCh37 |
| NC_000001.9:g.40335570C>G | NCBI36 |
| NG_009192.1:g.5160G>C , LRG_690:g.5160G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-73G>C | ENSP00000394863.3:n.-73G>C | |
| NM_000310.3:c.-73G>C , LRG_690t1:c.-73G>C | NP_000301.1:n.-73G>C | |
| NM_001142604.1:c.-73G>C | NP_001136076.1:n.-73G>C | |
| NM_001363695.1:c.-73G>C | NP_001350624.1:n.-73G>C |