Linked Data
ClinVar Variation Id:
2421976
ClinVar RCV Id:
RCV003116278
dbSNP Id:
rs1042517485
gnomAD v3:
16-4799792-G-T
gnomAD v4:
16-4799792-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799792G>T , CM000678.2:g.4799792G>T | GRCh38 |
| NC_000016.9:g.4849793G>T , CM000678.1:g.4849793G>T | GRCh37 |
| NC_000016.8:g.4789794G>T | NCBI36 |
| NG_032174.1:g.8159C>A , LRG_455:g.8159C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.337-11C>A MANE Select | ENSP00000322832.6:n.337-11C>A | |
| ENST00000322048.11:c.337-11C>A | ENSP00000322832.5:n.337-11C>A | |
| ENST00000585653.1:n.469-11C>A | ||
| ENST00000586153.1:c.82-11C>A | ENSP00000464699.1:n.82-11C>A | |
| ENST00000586336.5:n.436-11C>A | ||
| ENST00000586504.5:c.117-11C>A | ||
| ENST00000587377.5:c.337-11C>A | ENSP00000468343.1:n.337-11C>A | |
| ENST00000587711.5:c.118-1125C>A | ENSP00000467459.1:n.118-1125C>A | |
| ENST00000587843.5:c.*75-11C>A | ENSP00000465970.1:n.*75-11C>A | |
| ENST00000588201.5:c.*194-11C>A | ENSP00000466529.1:n.*194-11C>A | |
| ENST00000589543.5:n.294-11C>A | ||
| ENST00000591292.5:n.1666-11C>A | ||
| ENST00000591392.5:c.265-11C>A | ENSP00000467509.1:n.265-11C>A | |
| ENST00000592019.1:c.56-11C>A | ||
| NM_024589.2:c.337-11C>A , LRG_455t1:c.337-11C>A | NP_078865.1:n.337-11C>A | |
| NR_046480.1:n.661-11C>A | ||
| XM_006720947.2:c.337-11C>A | XP_006721010.1:n.337-11C>A | |
| XM_006720948.2:c.67-11C>A | XP_006721011.1:n.67-11C>A | |
| XM_006720947.4:c.337-11C>A | XP_006721010.1:n.337-11C>A | |
| XM_006720948.4:c.67-11C>A | XP_006721011.1:n.67-11C>A | |
| NM_024589.3:c.337-11C>A MANE Select | NP_078865.1:n.337-11C>A | |
| NR_046480.2:n.344-11C>A |