Linked Data
ClinVar Variation Id:
297672
ClinVar RCV Id:
RCV000360477
dbSNP Id:
rs183925883
gnomAD v2:
1-55464704-G-C
gnomAD v3:
1-54999031-G-C
gnomAD v4:
1-54999031-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999031G>C , CM000663.2:g.54999031G>C | GRCh38 |
| NC_000001.10:g.55464704G>C , CM000663.1:g.55464704G>C | GRCh37 |
| NC_000001.9:g.55237292G>C | NCBI36 |
| NG_008965.1:g.5088G>C | |
| NG_008965.2:g.5099G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651561.1:c.-156G>C MANE Select | ENSP00000498282.1:n.-156G>C | |
| ENST00000371265.4:c.-156G>C | ENSP00000360312.4:n.-156G>C | |
| NM_057176.2:c.-156G>C | NP_476517.1:n.-156G>C | |
| NM_057176.3:c.-156G>C MANE Select | NP_476517.1:n.-156G>C |