Linked Data
dbSNP Id:
rs568897454
ExAC:
16:4848219 G / T
gnomAD v2:
16-4848219-G-T
gnomAD v3:
16-4798218-G-T
gnomAD v4:
16-4798218-G-T
MyVariant Identifiers:
chr16:g.4848219G>T (hg19)
chr16:g.4848219_4848220delinsTC (hg19)
chr16:g.4798218G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798218G>T , CM000678.2:g.4798218G>T | GRCh38 |
| NC_000016.9:g.4848219G>T , CM000678.1:g.4848219G>T | GRCh37 |
| NC_000016.8:g.4788220G>T | NCBI36 |
| NG_032174.1:g.9733C>A , LRG_455:g.9733C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.532-34C>A MANE Select | ENSP00000322832.6:n.532-34C>A | |
| ENST00000322048.11:c.532-34C>A | ENSP00000322832.5:n.532-34C>A | |
| ENST00000586153.1:c.178-34C>A | ENSP00000464699.1:n.178-34C>A | |
| ENST00000586336.5:n.631-34C>A | ||
| ENST00000586504.5:c.312-34C>A | ||
| ENST00000587377.5:c.545-34C>A | ENSP00000468343.1:n.545-34C>A | |
| ENST00000587711.5:c.217-34C>A | ENSP00000467459.1:n.217-34C>A | |
| ENST00000587843.5:c.*270-34C>A | ENSP00000465970.1:n.*270-34C>A | |
| ENST00000588201.5:c.*523-34C>A | ENSP00000466529.1:n.*523-34C>A | |
| ENST00000589543.5:n.489-34C>A | ||
| ENST00000591292.5:n.1861-34C>A | ||
| ENST00000591392.5:c.460-34C>A | ENSP00000467509.1:n.460-34C>A | |
| ENST00000592019.1:c.77-403C>A | ||
| NM_024589.2:c.532-34C>A , LRG_455t1:c.532-34C>A | NP_078865.1:n.532-34C>A | |
| NR_046480.1:n.856-34C>A | ||
| XM_006720947.2:c.532-34C>A | XP_006721010.1:n.532-34C>A | |
| XM_006720948.2:c.262-34C>A | XP_006721011.1:n.262-34C>A | |
| XM_006720947.4:c.532-34C>A | XP_006721010.1:n.532-34C>A | |
| XM_006720948.4:c.262-34C>A | XP_006721011.1:n.262-34C>A | |
| NM_024589.3:c.532-34C>A MANE Select | NP_078865.1:n.532-34C>A | |
| NR_046480.2:n.539-34C>A |