Linked Data
ClinVar Variation Id:
213280
dbSNP Id:
rs863223554
gnomAD v2:
5-127712511-T-C
gnomAD v3:
5-128376818-T-C
gnomAD v4:
5-128376818-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128376818T>C , CM000667.2:g.128376818T>C | GRCh38 |
| NC_000005.9:g.127712511T>C , CM000667.1:g.127712511T>C | GRCh37 |
| NC_000005.8:g.127740410T>C | NCBI36 |
| NG_008750.1:g.166225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.1885A>G MANE Select | ENSP00000262464.4:p.Asn629Asp | |
| ENST00000262464.8:c.1885A>G | ENSP00000262464.4:p.Asn629Asp | |
| ENST00000508053.5:c.1885A>G | ENSP00000424571.1:p.Asn629Asp | |
| ENST00000508989.5:c.1786A>G | ENSP00000425596.1:p.Asn596Asp | |
| ENST00000511489.1:n.106A>G | ||
| ENST00000619499.4:c.1882A>G | ENSP00000482132.1:p.Asn628Asp | |
| NM_001999.3:c.1885A>G | NP_001990.2:p.Asn629Asp | |
| XM_017009228.2:c.1732A>G | XP_016864717.1:p.Asn578Asp | |
| NM_001999.4:c.1885A>G MANE Select | NP_001990.2:p.Asn629Asp |