Linked Data
ClinVar Variation Id:
31228
ClinVar RCV Id:
RCV000024227
dbSNP Id:
rs786205119
gnomAD v3:
16-4798186-T-A
gnomAD v4:
16-4798186-T-A
PubMed:
PMID:22424600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798186T>A , CM000678.2:g.4798186T>A | GRCh38 |
| NC_000016.9:g.4848187T>A , CM000678.1:g.4848187T>A | GRCh37 |
| NC_000016.8:g.4788188T>A | NCBI36 |
| NG_032174.1:g.9765A>T , LRG_455:g.9765A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.532-2A>T MANE Select | ENSP00000322832.6:n.532-2A>T | |
| ENST00000322048.11:c.532-2A>T | ENSP00000322832.5:n.532-2A>T | |
| ENST00000586153.1:c.178-2A>T | ENSP00000464699.1:n.178-2A>T | |
| ENST00000586336.5:n.631-2A>T | ||
| ENST00000586504.5:c.312-2A>T | ||
| ENST00000587377.5:c.545-2A>T | ENSP00000468343.1:n.545-2A>T | |
| ENST00000587711.5:c.217-2A>T | ENSP00000467459.1:n.217-2A>T | |
| ENST00000587843.5:c.*270-2A>T | ENSP00000465970.1:n.*270-2A>T | |
| ENST00000588201.5:c.*523-2A>T | ENSP00000466529.1:n.*523-2A>T | |
| ENST00000589543.5:n.489-2A>T | ||
| ENST00000591292.5:n.1861-2A>T | ||
| ENST00000591392.5:c.460-2A>T | ENSP00000467509.1:n.460-2A>T | |
| ENST00000592019.1:c.77-371A>T | ||
| NM_024589.2:c.532-2A>T , LRG_455t1:c.532-2A>T | NP_078865.1:n.532-2A>T | |
| NR_046480.1:n.856-2A>T | ||
| XM_006720947.2:c.532-2A>T | XP_006721010.1:n.532-2A>T | |
| XM_006720948.2:c.262-2A>T | XP_006721011.1:n.262-2A>T | |
| XM_006720947.4:c.532-2A>T | XP_006721010.1:n.532-2A>T | |
| XM_006720948.4:c.262-2A>T | XP_006721011.1:n.262-2A>T | |
| NM_024589.3:c.532-2A>T MANE Select | NP_078865.1:n.532-2A>T | |
| NR_046480.2:n.539-2A>T |