Linked Data
ClinVar Variation Id:
31229
ClinVar RCV Id:
RCV000024228
dbSNP Id:
rs387907146
gnomAD v2:
16-4848632-G-A
gnomAD v3:
16-4798631-G-A
gnomAD v4:
16-4798631-G-A
PubMed:
PMID:22482807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798631G>A , CM000678.2:g.4798631G>A | GRCh38 |
| NC_000016.9:g.4848632G>A , CM000678.1:g.4848632G>A | GRCh37 |
| NC_000016.8:g.4788633G>A | NCBI36 |
| NG_032174.1:g.9320C>T , LRG_455:g.9320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.469C>T MANE Select | ENSP00000322832.6:p.Arg157Ter | |
| ENST00000322048.11:c.469C>T | ENSP00000322832.5:p.Arg157Ter | |
| ENST00000585653.1:n.601C>T | ||
| ENST00000586153.1:c.178-447C>T | ENSP00000464699.1:n.178-447C>T | |
| ENST00000586336.5:n.568C>T | ||
| ENST00000586504.5:c.249C>T | ||
| ENST00000587377.5:c.482C>T | ENSP00000468343.1:p.Pro161Leu | |
| ENST00000587711.5:c.154C>T | ENSP00000467459.1:p.Arg52Ter | |
| ENST00000587843.5:c.*207C>T | ENSP00000465970.1:n.*207C>T | |
| ENST00000588201.5:c.*460C>T | ENSP00000466529.1:n.*460C>T | |
| ENST00000589543.5:n.426C>T | ||
| ENST00000591292.5:n.1798C>T | ||
| ENST00000591392.5:c.397C>T | ENSP00000467509.1:p.Arg133Ter | |
| ENST00000592019.1:c.77-816C>T | ||
| NM_024589.2:c.469C>T , LRG_455t1:c.469C>T | NP_078865.1:p.Arg157Ter | |
| NR_046480.1:n.793C>T | ||
| XM_006720947.2:c.469C>T | XP_006721010.1:p.Arg157Ter | |
| XM_006720948.2:c.199C>T | XP_006721011.1:p.Arg67Ter | |
| XM_006720947.4:c.469C>T | XP_006721010.1:p.Arg157Ter | |
| XM_006720948.4:c.199C>T | XP_006721011.1:p.Arg67Ter | |
| NM_024589.3:c.469C>T MANE Select | NP_078865.1:p.Arg157Ter | |
| NR_046480.2:n.476C>T |