Linked Data
ClinVar Variation Id:
3107109
ClinVar RCV Id:
RCV004404463
dbSNP Id:
rs1048748638
gnomAD v2:
4-88234987-T-C
gnomAD v4:
4-87313835-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87313835T>C , CM000666.2:g.87313835T>C | GRCh38 |
| NC_000004.11:g.88234987T>C , CM000666.1:g.88234987T>C | GRCh37 |
| NC_000004.10:g.88454011T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328546.5:c.683A>G MANE Select | ENSP00000333300.4:p.Asn228Ser | |
| ENST00000302219.10:c.575A>G | ENSP00000305438.6:p.Asn192Ser | |
| ENST00000328546.4:c.683A>G | ENSP00000333300.4:p.Asn228Ser | |
| NM_001136230.2:c.575A>G | NP_001129702.1:p.Asn192Ser | |
| NM_178135.4:c.683A>G | NP_835236.2:p.Asn228Ser | |
| NM_178135.5:c.683A>G MANE Select | NP_835236.2:p.Asn228Ser | |
| NM_001136230.3:c.575A>G | NP_001129702.1:p.Asn192Ser |