Linked Data
ClinVar Variation Id:
3229028
ClinVar RCV Id:
RCV004522651
dbSNP Id:
rs1463514561
gnomAD v2:
15-40764458-A-C
gnomAD v3:
15-40472259-A-C
gnomAD v4:
15-40472259-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472259A>C , CM000677.2:g.40472259A>C | GRCh38 |
| NC_000015.9:g.40764458A>C , CM000677.1:g.40764458A>C | GRCh37 |
| NC_000015.8:g.38551750A>C | NCBI36 |
| NG_017074.1:g.6299A>C , LRG_600:g.6299A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.1046A>C MANE Select | ENSP00000307297.6:p.Gln349Pro | |
| ENST00000306243.6:c.1046A>C | ENSP00000307297.5:p.Gln349Pro | |
| ENST00000559991.1:c.971A>C | ENSP00000453882.1:p.Gln324Pro | |
| NM_130468.3:c.1046A>C , LRG_600t1:c.1046A>C | NP_569735.1:p.Gln349Pro | |
| NM_130468.4:c.1046A>C MANE Select | NP_569735.1:p.Gln349Pro |