Linked Data
ClinVar Variation Id:
542083
ClinVar RCV Id:
RCV000652461
dbSNP Id:
rs747837263
ExAC:
3:69167962 A / T
gnomAD v2:
3-69167962-A-T
gnomAD v3:
3-69118811-A-T
gnomAD v4:
3-69118811-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69118811A>T , CM000665.2:g.69118811A>T | GRCh38 |
| NC_000003.11:g.69167962A>T , CM000665.1:g.69167962A>T | GRCh37 |
| NC_000003.10:g.69250652A>T | NCBI36 |
| NG_041828.1:g.8785T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.1544T>A MANE Select | ENSP00000414670.3:p.Ile515Asn | |
| ENST00000420581.6:c.1544T>A | ENSP00000414670.2:p.Ile515Asn | |
| ENST00000475434.1:c.1544T>A | ENSP00000418645.1:p.Ile515Asn | |
| ENST00000489031.5:c.1544T>A | ENSP00000417210.1:p.Ile515Asn | |
| NM_001304418.1:c.1544T>A | NP_001291347.1:p.Ile515Asn | |
| NM_198271.4:c.1544T>A | NP_938012.2:p.Ile515Asn | |
| NM_001304418.3:c.1544T>A | NP_001291347.1:p.Ile515Asn | |
| NM_198271.5:c.1544T>A MANE Select | NP_938012.2:p.Ile515Asn |