Linked Data
ClinVar Variation Id:
213423
ClinVar RCV Id:
RCV000197843
RCV000487809
RCV000581293
RCV000469864
RCV002277537
RCV002310791
RCV002277536
dbSNP Id:
rs201220519
ExAC:
5:127622476 T / A
gnomAD v2:
5-127622476-T-A
gnomAD v3:
5-128286784-T-A
gnomAD v4:
5-128286784-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128286784T>A , CM000667.2:g.128286784T>A | GRCh38 |
| NC_000005.9:g.127622476T>A , CM000667.1:g.127622476T>A | GRCh37 |
| NC_000005.8:g.127650375T>A | NCBI36 |
| NG_008750.1:g.256260A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3730A>T | ||
| ENST00000262464.9:c.6946A>T MANE Select | ENSP00000262464.4:p.Ile2316Phe | |
| ENST00000262464.8:c.6946A>T | ENSP00000262464.4:p.Ile2316Phe | |
| ENST00000508053.5:c.6946A>T | ENSP00000424571.1:p.Ile2316Phe | |
| ENST00000619499.4:c.6943A>T | ENSP00000482132.1:p.Ile2315Phe | |
| NM_001999.3:c.6946A>T | NP_001990.2:p.Ile2316Phe | |
| XM_017009228.2:c.6793A>T | XP_016864717.1:p.Ile2265Phe | |
| NM_001999.4:c.6946A>T MANE Select | NP_001990.2:p.Ile2316Phe |