Linked Data
ClinVar Variation Id:
534956
ClinVar RCV Id:
RCV000642683
dbSNP Id:
rs150681002
ExAC:
3:167507164 A / T
gnomAD v2:
3-167507164-A-T
gnomAD v3:
3-167789376-A-T
gnomAD v4:
3-167789376-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167789376A>T , CM000665.2:g.167789376A>T | GRCh38 |
| NC_000003.11:g.167507164A>T , CM000665.1:g.167507164A>T | GRCh37 |
| NC_000003.10:g.168989858A>T | NCBI36 |
| NG_008217.1:g.58733A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446050.7:c.248A>T MANE Select | ENSP00000397373.2:p.Asn83Ile | |
| ENST00000295777.9:c.248A>T | ENSP00000295777.5:p.Asn83Ile | |
| ENST00000446050.6:c.248A>T | ENSP00000397373.2:p.Asn83Ile | |
| ENST00000472747.2:c.248A>T | ENSP00000420561.2:p.Asn83Ile | |
| ENST00000472941.5:c.248A>T | ENSP00000420133.1:p.Asn83Ile | |
| NM_001122752.1:c.248A>T | NP_001116224.1:p.Asn83Ile | |
| NM_005025.4:c.248A>T | NP_005016.1:p.Asn83Ile | |
| XM_017006618.2:c.248A>T | XP_016862107.1:p.Asn83Ile | |
| NM_001122752.2:c.248A>T MANE Select | NP_001116224.1:p.Asn83Ile | |
| NM_005025.5:c.248A>T | NP_005016.1:p.Asn83Ile |