Linked Data
ClinVar Variation Id:
2657689
ClinVar RCV Id:
RCV003433941
dbSNP Id:
rs141948033
ExAC:
7:94953733 T / C
gnomAD v2:
7-94953733-T-C
gnomAD v3:
7-95324421-T-C
gnomAD v4:
7-95324421-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324421T>C , CM000669.2:g.95324421T>C | GRCh38 |
| NC_000007.13:g.94953733T>C , CM000669.1:g.94953733T>C | GRCh37 |
| NC_000007.12:g.94791669T>C | NCBI36 |
| NG_008779.1:g.5152A>G | |
| NG_008779.2:g.5286A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.55A>G MANE Select | ENSP00000222381.3:p.Asn19Asp | |
| ENST00000222381.7:c.55A>G | ENSP00000222381.3:p.Asn19Asp | |
| ENST00000433729.1:c.55A>G | ENSP00000407359.1:p.Asn19Asp | |
| NM_000446.5:c.55A>G | NP_000437.3:p.Asn19Asp | |
| NM_000446.6:c.55A>G | NP_000437.3:p.Asn19Asp | |
| NM_000446.7:c.55A>G MANE Select | NP_000437.3:p.Asn19Asp |