Linked Data
ClinVar Variation Id:
297752
ClinVar RCV Id:
RCV000391954
dbSNP Id:
rs7333
gnomAD v2:
1-59041220-C-T
gnomAD v3:
1-58575548-C-T
gnomAD v4:
1-58575548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58575548C>T , CM000663.2:g.58575548C>T | GRCh38 |
| NC_000001.10:g.59041220C>T , CM000663.1:g.59041220C>T | GRCh37 |
| NC_000001.9:g.58813808C>T | NCBI36 |
| NG_016237.1:g.6947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.*637G>A MANE Select | ENSP00000360269.2:n.*637G>A | |
| ENST00000371225.3:c.*637G>A | ENSP00000360269.2:n.*637G>A | |
| NM_002353.2:c.*637G>A | NP_002344.2:n.*637G>A | |
| NM_002353.3:c.*637G>A MANE Select | NP_002344.2:n.*637G>A |