Linked Data
ClinVar Variation Id:
31226
ClinVar RCV Id:
RCV000024225
dbSNP Id:
rs387907145
gnomAD v4:
16-4800548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4800548G>A , CM000678.2:g.4800548G>A | GRCh38 |
| NC_000016.9:g.4850549G>A , CM000678.1:g.4850549G>A | GRCh37 |
| NC_000016.8:g.4790550G>A | NCBI36 |
| NG_032174.1:g.7403C>T , LRG_455:g.7403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.286C>T MANE Select | ENSP00000322832.6:p.Gln96Ter | |
| ENST00000322048.11:c.286C>T | ENSP00000322832.5:p.Gln96Ter | |
| ENST00000585653.1:n.418C>T | ||
| ENST00000586153.1:c.31C>T | ENSP00000464699.1:p.Gln11Ter | |
| ENST00000586336.5:n.385C>T | ||
| ENST00000586504.5:c.66C>T | ||
| ENST00000587377.5:c.286C>T | ENSP00000468343.1:p.Gln96Ter | |
| ENST00000587711.5:c.117+1834C>T | ENSP00000467459.1:n.117+1834C>T | |
| ENST00000587843.5:c.*24C>T | ENSP00000465970.1:n.*24C>T | |
| ENST00000588201.5:c.*143C>T | ENSP00000466529.1:n.*143C>T | |
| ENST00000589543.5:n.243C>T | ||
| ENST00000591292.5:n.1615C>T | ||
| ENST00000591392.5:c.214C>T | ENSP00000467509.1:p.Gln72Ter | |
| ENST00000592019.1:c.5C>T | ||
| NM_024589.2:c.286C>T , LRG_455t1:c.286C>T | NP_078865.1:p.Gln96Ter | |
| NR_046480.1:n.610C>T | ||
| XM_006720947.2:c.286C>T | XP_006721010.1:p.Gln96Ter | |
| XM_006720948.2:c.16C>T | XP_006721011.1:p.Gln6Ter | |
| XM_006720947.4:c.286C>T | XP_006721010.1:p.Gln96Ter | |
| XM_006720948.4:c.16C>T | XP_006721011.1:p.Gln6Ter | |
| NM_024589.3:c.286C>T MANE Select | NP_078865.1:p.Gln96Ter | |
| NR_046480.2:n.293C>T |