Linked Data
ClinVar Variation Id:
208395
ClinVar RCV Id:
RCV000202335
dbSNP Id:
rs748809996
ExAC:
3:73651603 C / T
gnomAD v2:
3-73651603-C-T
gnomAD v3:
3-73602452-C-T
gnomAD v4:
3-73602452-C-T
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.73602452C>T , CM000665.2:g.73602452C>T | GRCh38 |
| NC_000003.11:g.73651603C>T , CM000665.1:g.73651603C>T | GRCh37 |
| NC_000003.10:g.73734293C>T | NCBI36 |
| NG_047128.1:g.27470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263666.9:c.820G>A MANE Select | ENSP00000263666.4:p.Asp274Asn | |
| ENST00000263666.8:c.820G>A | ENSP00000263666.4:p.Asp274Asn | |
| ENST00000308537.4:c.820G>A | ENSP00000308831.4:p.Asp274Asn | |
| NM_015009.2:c.820G>A | NP_055824.1:p.Asp274Asn | |
| XM_017005942.2:c.733G>A | XP_016861431.1:p.Asp245Asn | |
| NM_015009.3:c.820G>A MANE Select | NP_055824.1:p.Asp274Asn |