Linked Data
ClinVar Variation Id:
425354
dbSNP Id:
rs760817242
ExAC:
5:127800440 T / C
gnomAD v2:
5-127800440-T-C
gnomAD v3:
5-128464747-T-C
gnomAD v4:
5-128464747-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128464747T>C , CM000667.2:g.128464747T>C | GRCh38 |
| NC_000005.9:g.127800440T>C , CM000667.1:g.127800440T>C | GRCh37 |
| NC_000005.8:g.127828339T>C | NCBI36 |
| NG_008750.1:g.78296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.803A>G | ENSP00000424571.2:p.Asn268Ser | |
| ENST00000703787.1:n.510A>G | ||
| ENST00000262464.9:c.803A>G MANE Select | ENSP00000262464.4:p.Asn268Ser | |
| ENST00000262464.8:c.803A>G | ENSP00000262464.4:p.Asn268Ser | |
| ENST00000502468.5:c.803A>G | ENSP00000424753.1:p.Asn268Ser | |
| ENST00000508053.5:c.803A>G | ENSP00000424571.1:p.Asn268Ser | |
| ENST00000508989.5:c.704A>G | ENSP00000425596.1:p.Asn235Ser | |
| ENST00000514742.1:n.1423A>G | ||
| ENST00000619499.4:c.800A>G | ENSP00000482132.1:p.Asn267Ser | |
| ENST00000620257.1:c.802-1A>G | ENSP00000479157.1:n.802-1A>G | |
| NM_001999.3:c.803A>G | NP_001990.2:p.Asn268Ser | |
| XM_017009228.2:c.803A>G | XP_016864717.1:p.Asn268Ser | |
| NM_001999.4:c.803A>G MANE Select | NP_001990.2:p.Asn268Ser |