Linked Data
ClinVar Variation Id:
3127438
ClinVar RCV Id:
RCV004424791
dbSNP Id:
rs575140567
ExAC:
16:71803552 G / C
gnomAD v2:
16-71803552-G-C
gnomAD v3:
16-71769649-G-C
gnomAD v4:
16-71769649-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71769649G>C , CM000678.2:g.71769649G>C | GRCh38 |
| NC_000016.9:g.71803552G>C , CM000678.1:g.71803552G>C | GRCh37 |
| NC_000016.8:g.70361053G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299980.9:c.616C>G MANE Select | ENSP00000299980.4:p.Pro206Ala | |
| ENST00000299980.8:c.616C>G | ENSP00000299980.4:p.Pro206Ala | |
| ENST00000393512.7:c.616C>G | ENSP00000377148.3:p.Pro206Ala | |
| ENST00000450149.6:c.*179C>G | ENSP00000405836.2:n.*179C>G | |
| ENST00000565009.5:c.581+1491C>G | ENSP00000457726.1:n.581+1491C>G | |
| ENST00000565642.5:n.95C>G | ||
| ENST00000568327.5:c.616C>G | ENSP00000454970.1:p.Pro206Ala | |
| ENST00000569748.5:c.616C>G | ENSP00000454523.1:p.Pro206Ala | |
| NM_001030007.1:c.616C>G | NP_001025178.1:p.Pro206Ala | |
| NM_001128.5:c.616C>G | NP_001119.3:p.Pro206Ala | |
| NM_001030007.2:c.616C>G | NP_001025178.1:p.Pro206Ala | |
| NM_001128.6:c.616C>G MANE Select | NP_001119.3:p.Pro206Ala |