Linked Data
ClinVar Variation Id:
313875
dbSNP Id:
rs886050652
gnomAD v3:
14-67752467-T-C
gnomAD v4:
14-67752467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67752467T>C , CM000676.2:g.67752467T>C | GRCh38 |
| NC_000014.8:g.68219184T>C , CM000676.1:g.68219184T>C | GRCh37 |
| NC_000014.7:g.67288937T>C | NCBI36 |
| NG_011836.1:g.69123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.7248A>G MANE Select | ENSP00000251119.5:p.Lys2416= | |
| ENST00000676512.1:c.7266A>G | ENSP00000504552.1:p.Lys2422= | |
| ENST00000676620.1:c.7170A>G | ENSP00000504587.1:p.Lys2390= | |
| ENST00000678386.1:c.7293A>G | ENSP00000503677.1:p.Lys2431= | |
| ENST00000347230.8:c.7248A>G | ENSP00000251119.5:p.Lys2416= | |
| ENST00000394455.6:n.2511A>G | ||
| ENST00000554523.5:n.8003A>G | ||
| ENST00000554557.5:c.*5226A>G | ENSP00000450431.1:n.*5226A>G | |
| ENST00000557306.1:c.786A>G | ENSP00000452142.1:p.Lys262= | |
| NM_015346.3:c.7248A>G | NP_056161.2:p.Lys2416= | |
| XM_006720093.2:c.7248A>G | XP_006720156.1:p.Lys2416= | |
| XM_011536606.1:c.5739A>G | XP_011534908.1:p.Lys1913= | |
| XM_011536607.1:c.4923A>G | XP_011534909.1:p.Lys1641= | |
| XM_011536608.1:c.4830A>G | XP_011534910.1:p.Lys1610= | |
| XM_017021124.1:c.7266A>G | XP_016876613.1:p.Lys2422= | |
| XM_017021125.1:c.7266A>G | XP_016876614.1:p.Lys2422= | |
| XM_017021126.1:c.5757A>G | XP_016876615.1:p.Lys1919= | |
| XM_017021127.2:c.4941A>G | XP_016876616.1:p.Lys1647= | |
| XM_017021128.1:c.4848A>G | XP_016876617.1:p.Lys1616= | |
| NM_015346.4:c.7248A>G MANE Select | NP_056161.2:p.Lys2416= |