Linked Data
ClinVar Variation Id:
185205
dbSNP Id:
rs786201999
gnomAD v2:
16-68863563-G-A
gnomAD v3:
16-68829660-G-A
gnomAD v4:
16-68829660-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829660G>A , CM000678.2:g.68829660G>A | GRCh38 |
| NC_000016.9:g.68863563G>A , CM000678.1:g.68863563G>A | GRCh37 |
| NC_000016.8:g.67421064G>A | NCBI36 |
| NG_008021.1:g.97369G>A , LRG_301:g.97369G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2302G>A MANE Select | ENSP00000261769.4:p.Asp768Asn | |
| ENST00000261769.9:c.2302G>A | ENSP00000261769.4:p.Asp768Asn | |
| ENST00000422392.6:c.2119G>A | ENSP00000414946.2:p.Asp707Asn | |
| ENST00000562118.1:n.520G>A | ||
| ENST00000562836.5:n.2373G>A | ||
| ENST00000566510.5:c.*968G>A | ENSP00000458139.1:n.*968G>A | |
| ENST00000566612.5:c.*542G>A | ENSP00000454782.1:n.*542G>A | |
| ENST00000611625.4:c.2365G>A | ENSP00000481063.1:p.Asp789Asn | |
| ENST00000612417.4:c.1853+3106G>A | ENSP00000478360.1:n.1853+3106G>A | |
| ENST00000621016.4:c.1866-4543G>A | ENSP00000480664.1:n.1866-4543G>A | |
| NM_004360.3:c.2302G>A , LRG_301t1:c.2302G>A | NP_004351.1:p.Asp768Asn | |
| XM_011523488.1:c.1567G>A | XP_011521790.1:p.Asp523Asn | |
| XM_011523489.1:c.1567G>A | XP_011521791.1:p.Asp523Asn | |
| NM_001317184.1:c.2119G>A | NP_001304113.1:p.Asp707Asn | |
| NM_001317185.1:c.754G>A | NP_001304114.1:p.Asp252Asn | |
| NM_001317186.1:c.337G>A | NP_001304115.1:p.Asp113Asn | |
| NM_004360.4:c.2302G>A | NP_004351.1:p.Asp768Asn | |
| NM_004360.5:c.2302G>A MANE Select | NP_004351.1:p.Asp768Asn | |
| NM_001317184.2:c.2119G>A | NP_001304113.1:p.Asp707Asn | |
| NM_001317185.2:c.754G>A | NP_001304114.1:p.Asp252Asn | |
| NM_001317186.2:c.337G>A | NP_001304115.1:p.Asp113Asn |