Linked Data
ClinVar Variation Id:
1498637
ClinVar RCV Id:
RCV001999310
dbSNP Id:
rs377687764
ExAC:
16:4849670 G / A
gnomAD v2:
16-4849670-G-A
gnomAD v3:
16-4799669-G-A
gnomAD v4:
16-4799669-G-A
MyVariant Identifiers:
chr16:g.4849670G>A (hg19)
chr16:g.4849670_4849671delinsAC (hg19)
chr16:g.4799669G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799669G>A , CM000678.2:g.4799669G>A | GRCh38 |
| NC_000016.9:g.4849670G>A , CM000678.1:g.4849670G>A | GRCh37 |
| NC_000016.8:g.4789671G>A | NCBI36 |
| NG_032174.1:g.8282C>T , LRG_455:g.8282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.432+17C>T MANE Select | ENSP00000322832.6:n.432+17C>T | |
| ENST00000322048.11:c.432+17C>T | ENSP00000322832.5:n.432+17C>T | |
| ENST00000585653.1:n.564+17C>T | ||
| ENST00000586153.1:c.177+17C>T | ENSP00000464699.1:n.177+17C>T | |
| ENST00000586336.5:n.531+17C>T | ||
| ENST00000586504.5:c.212+17C>T | ||
| ENST00000587377.5:c.423+26C>T | ENSP00000468343.1:n.423+26C>T | |
| ENST00000587711.5:c.118-1002C>T | ENSP00000467459.1:n.118-1002C>T | |
| ENST00000587843.5:c.*170+17C>T | ENSP00000465970.1:n.*170+17C>T | |
| ENST00000588201.5:c.*289+17C>T | ENSP00000466529.1:n.*289+17C>T | |
| ENST00000589543.5:n.389+17C>T | ||
| ENST00000591292.5:n.1761+17C>T | ||
| ENST00000591392.5:c.360+17C>T | ENSP00000467509.1:n.360+17C>T | |
| ENST00000592019.1:c.76+92C>T | ||
| NM_024589.2:c.432+17C>T , LRG_455t1:c.432+17C>T | NP_078865.1:n.432+17C>T | |
| NR_046480.1:n.756+17C>T | ||
| XM_006720947.2:c.432+17C>T | XP_006721010.1:n.432+17C>T | |
| XM_006720948.2:c.162+17C>T | XP_006721011.1:n.162+17C>T | |
| XM_006720947.4:c.432+17C>T | XP_006721010.1:n.432+17C>T | |
| XM_006720948.4:c.162+17C>T | XP_006721011.1:n.162+17C>T | |
| NM_024589.3:c.432+17C>T MANE Select | NP_078865.1:n.432+17C>T | |
| NR_046480.2:n.439+17C>T |