Linked Data
ClinVar Variation Id:
127922
ClinVar RCV Id:
RCV000115851
RCV000120504
RCV000206674
RCV000487740
RCV001798345
RCV003328175
RCV003905101
dbSNP Id:
rs372989292
ExAC:
16:68863590 G / A
gnomAD v2:
16-68863590-G-A
gnomAD v3:
16-68829687-G-A
gnomAD v4:
16-68829687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829687G>A , CM000678.2:g.68829687G>A | GRCh38 |
| NC_000016.9:g.68863590G>A , CM000678.1:g.68863590G>A | GRCh37 |
| NC_000016.8:g.67421091G>A | NCBI36 |
| NG_008021.1:g.97396G>A , LRG_301:g.97396G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2329G>A MANE Select | ENSP00000261769.4:p.Asp777Asn | |
| ENST00000261769.9:c.2329G>A | ENSP00000261769.4:p.Asp777Asn | |
| ENST00000422392.6:c.2146G>A | ENSP00000414946.2:p.Asp716Asn | |
| ENST00000562118.1:n.547G>A | ||
| ENST00000562836.5:n.2400G>A | ||
| ENST00000566510.5:c.*995G>A | ENSP00000458139.1:n.*995G>A | |
| ENST00000566612.5:c.*569G>A | ENSP00000454782.1:n.*569G>A | |
| ENST00000611625.4:c.2392G>A | ENSP00000481063.1:p.Asp798Asn | |
| ENST00000612417.4:c.1853+3133G>A | ENSP00000478360.1:n.1853+3133G>A | |
| ENST00000621016.4:c.1866-4516G>A | ENSP00000480664.1:n.1866-4516G>A | |
| NM_004360.3:c.2329G>A , LRG_301t1:c.2329G>A | NP_004351.1:p.Asp777Asn | |
| XM_011523488.1:c.1594G>A | XP_011521790.1:p.Asp532Asn | |
| XM_011523489.1:c.1594G>A | XP_011521791.1:p.Asp532Asn | |
| NM_001317184.1:c.2146G>A | NP_001304113.1:p.Asp716Asn | |
| NM_001317185.1:c.781G>A | NP_001304114.1:p.Asp261Asn | |
| NM_001317186.1:c.364G>A | NP_001304115.1:p.Asp122Asn | |
| NM_004360.4:c.2329G>A | NP_004351.1:p.Asp777Asn | |
| NM_004360.5:c.2329G>A MANE Select | NP_004351.1:p.Asp777Asn | |
| NM_001317184.2:c.2146G>A | NP_001304113.1:p.Asp716Asn | |
| NM_001317185.2:c.781G>A | NP_001304114.1:p.Asp261Asn | |
| NM_001317186.2:c.364G>A | NP_001304115.1:p.Asp122Asn |