Linked Data
ClinVar Variation Id:
1643839
ClinVar RCV Id:
RCV002138533
dbSNP Id:
rs764454438
ExAC:
6:24302044 T / C
gnomAD v2:
6-24302044-T-C
gnomAD v3:
6-24301816-T-C
gnomAD v4:
6-24301816-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301816T>C , CM000668.2:g.24301816T>C | GRCh38 |
| NC_000006.11:g.24302044T>C , CM000668.1:g.24302044T>C | GRCh37 |
| NC_000006.10:g.24410023T>C | NCBI36 |
| NG_012829.1:g.61237A>G | |
| NG_012829.2:g.86477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.456A>G MANE Select | ENSP00000367715.3:p.Pro152= | |
| ENST00000378454.7:c.456A>G | ENSP00000367715.3:p.Pro152= | |
| NM_001195610.1:c.456A>G | NP_001182539.1:p.Pro152= | |
| NM_016356.4:c.456A>G | NP_057440.2:p.Pro152= | |
| NM_016356.5:c.456A>G MANE Select | NP_057440.2:p.Pro152= | |
| NM_001195610.2:c.456A>G | NP_001182539.1:p.Pro152= |