Linked Data
ClinVar Variation Id:
2264669
ClinVar RCV Id:
RCV004116490
dbSNP Id:
rs1045039195
gnomAD v3:
14-73937645-T-G
gnomAD v4:
14-73937645-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73937645T>G , CM000676.2:g.73937645T>G | GRCh38 |
| NC_000014.8:g.74404348T>G , CM000676.1:g.74404348T>G | GRCh37 |
| NC_000014.7:g.73474101T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.1622A>C MANE Select | ENSP00000286544.4:p.Gln541Pro | |
| ENST00000651776.1:c.1811A>C | ENSP00000499021.1:p.Gln604Pro | |
| ENST00000286544.3:c.1811A>C | ENSP00000286544.3:p.Gln604Pro | |
| ENST00000556794.5:c.204A>C | ||
| NM_152445.2:c.1811A>C | NP_689658.2:p.Gln604Pro | |
| XM_011536475.1:c.1811A>C | XP_011534777.1:p.Gln604Pro | |
| NM_152445.3:c.1622A>C MANE Select | NP_689658.3:p.Gln541Pro | |
| XM_011536475.2:c.1811A>C | XP_011534777.1:p.Gln604Pro |