Linked Data
ClinVar Variation Id:
507894
ClinVar RCV Id:
RCV000599810
dbSNP Id:
rs765760107
ExAC:
4:120057647 T / C
gnomAD v2:
4-120057647-T-C
gnomAD v4:
4-119136492-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119136492T>C , CM000666.2:g.119136492T>C | GRCh38 |
| NC_000004.11:g.120057647T>C , CM000666.1:g.120057647T>C | GRCh37 |
| NC_000004.10:g.120277095T>C | NCBI36 |
| NG_029747.1:g.5709T>C , LRG_396:g.5709T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.-14-20T>C MANE Select | ENSP00000306997.6:n.-14-20T>C | |
| ENST00000307128.5:c.-14-20T>C | ENSP00000306997.5:n.-14-20T>C | |
| NM_016599.4:c.-14-20T>C , LRG_396t1:c.-14-20T>C | NP_057683.1:n.-14-20T>C | |
| XM_006714234.2:c.-14-20T>C | XP_006714297.1:n.-14-20T>C | |
| XM_006714234.4:c.-14-20T>C | XP_006714297.1:n.-14-20T>C | |
| NM_016599.5:c.-14-20T>C MANE Select | NP_057683.1:n.-14-20T>C |