Linked Data
ClinVar Variation Id:
297758
ClinVar RCV Id:
RCV000265932
dbSNP Id:
rs41313363
gnomAD v2:
1-59041655-T-C
gnomAD v3:
1-58575983-T-C
gnomAD v4:
1-58575983-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58575983T>C , CM000663.2:g.58575983T>C | GRCh38 |
| NC_000001.10:g.59041655T>C , CM000663.1:g.59041655T>C | GRCh37 |
| NC_000001.9:g.58814243T>C | NCBI36 |
| NG_016237.1:g.6512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.*202A>G MANE Select | ENSP00000360269.2:n.*202A>G | |
| ENST00000371225.3:c.*202A>G | ENSP00000360269.2:n.*202A>G | |
| NM_002353.2:c.*202A>G | NP_002344.2:n.*202A>G | |
| NM_002353.3:c.*202A>G MANE Select | NP_002344.2:n.*202A>G |