Linked Data
ClinVar Variation Id:
1552887
ClinVar RCV Id:
RCV002187272
dbSNP Id:
rs888415102
gnomAD v2:
2-86267568-G-A
gnomAD v3:
2-86040445-G-A
gnomAD v4:
2-86040445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040445G>A , CM000664.2:g.86040445G>A | GRCh38 |
| NC_000002.11:g.86267568G>A , CM000664.1:g.86267568G>A | GRCh37 |
| NC_000002.10:g.86121079G>A | NCBI36 |
| NG_050742.2:g.70711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3687C>T MANE Select | ENSP00000263857.6:p.Asn1229= | |
| ENST00000263857.10:c.3687C>T | ENSP00000263857.6:p.Asn1229= | |
| ENST00000409681.1:c.3687C>T | ENSP00000386300.1:p.Asn1229= | |
| ENST00000462078.1:n.75C>T | ||
| NM_015425.3:c.3687C>T | NP_056240.2:p.Asn1229= | |
| XM_006711983.2:c.3363C>T | XP_006712046.1:p.Asn1121= | |
| NM_015425.5:c.3687C>T | NP_056240.2:p.Asn1229= | |
| NM_015425.6:c.3687C>T MANE Select | NP_056240.2:p.Asn1229= |