Linked Data
ClinVar Variation Id:
771822
ClinVar RCV Id:
RCV001473686
dbSNP Id:
rs1464249475
gnomAD v2:
16-4849699-A-G
gnomAD v3:
16-4799698-A-G
gnomAD v4:
16-4799698-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799698A>G , CM000678.2:g.4799698A>G | GRCh38 |
| NC_000016.9:g.4849699A>G , CM000678.1:g.4849699A>G | GRCh37 |
| NC_000016.8:g.4789700A>G | NCBI36 |
| NG_032174.1:g.8253T>C , LRG_455:g.8253T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.420T>C MANE Select | ENSP00000322832.6:p.Ala140= | |
| ENST00000322048.11:c.420T>C | ENSP00000322832.5:p.Ala140= | |
| ENST00000585653.1:n.552T>C | ||
| ENST00000586153.1:c.165T>C | ENSP00000464699.1:p.Ala55= | |
| ENST00000586336.5:n.519T>C | ||
| ENST00000586504.5:c.200T>C | ||
| ENST00000587377.5:c.420T>C | ENSP00000468343.1:p.Ala140= | |
| ENST00000587711.5:c.118-1031T>C | ENSP00000467459.1:n.118-1031T>C | |
| ENST00000587843.5:c.*158T>C | ENSP00000465970.1:n.*158T>C | |
| ENST00000588201.5:c.*277T>C | ENSP00000466529.1:n.*277T>C | |
| ENST00000589543.5:n.377T>C | ||
| ENST00000591292.5:n.1749T>C | ||
| ENST00000591392.5:c.348T>C | ENSP00000467509.1:p.Ala116= | |
| ENST00000592019.1:c.76+63T>C | ||
| NM_024589.2:c.420T>C , LRG_455t1:c.420T>C | NP_078865.1:p.Ala140= | |
| NR_046480.1:n.744T>C | ||
| XM_006720947.2:c.420T>C | XP_006721010.1:p.Ala140= | |
| XM_006720948.2:c.150T>C | XP_006721011.1:p.Ala50= | |
| XM_006720947.4:c.420T>C | XP_006721010.1:p.Ala140= | |
| XM_006720948.4:c.150T>C | XP_006721011.1:p.Ala50= | |
| NM_024589.3:c.420T>C MANE Select | NP_078865.1:p.Ala140= | |
| NR_046480.2:n.427T>C |