Linked Data
ClinVar Variation Id:
1987532
dbSNP Id:
rs1027434884
gnomAD v2:
8-10480200-C-T
gnomAD v3:
8-10622690-C-T
gnomAD v4:
8-10622690-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622690C>T , CM000670.2:g.10622690C>T | GRCh38 |
| NC_000008.10:g.10480200C>T , CM000670.1:g.10480200C>T | GRCh37 |
| NC_000008.9:g.10517610C>T | NCBI36 |
| NG_028035.1:g.37418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.512G>A MANE Select | ENSP00000371923.3:p.Ser171Asn | |
| ENST00000329335.3:n.762G>A | ||
| ENST00000382483.3:c.512G>A | ENSP00000371923.3:p.Ser171Asn | |
| NM_178857.5:c.512G>A | NP_849188.4:p.Ser171Asn | |
| NM_178857.6:c.512G>A MANE Select | NP_849188.4:p.Ser171Asn |