Linked Data
ClinVar Variation Id:
463763
dbSNP Id:
rs762704513
ExAC:
16:68867201 A / C
gnomAD v2:
16-68867201-A-C
gnomAD v4:
16-68833298-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833298A>C , CM000678.2:g.68833298A>C | GRCh38 |
| NC_000016.9:g.68867201A>C , CM000678.1:g.68867201A>C | GRCh37 |
| NC_000016.8:g.67424702A>C | NCBI36 |
| NG_008021.1:g.101007A>C , LRG_301:g.101007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2448A>C MANE Select | ENSP00000261769.4:p.Lys816Asn | |
| ENST00000261769.9:c.2448A>C | ENSP00000261769.4:p.Lys816Asn | |
| ENST00000422392.6:c.2265A>C | ENSP00000414946.2:p.Lys755Asn | |
| ENST00000562118.1:n.666A>C | ||
| ENST00000562836.5:n.2519A>C | ||
| ENST00000566510.5:c.*1114A>C | ENSP00000458139.1:n.*1114A>C | |
| ENST00000566612.5:c.*688A>C | ENSP00000454782.1:n.*688A>C | |
| ENST00000611625.4:c.2511A>C | ENSP00000481063.1:p.Lys837Asn | |
| ENST00000612417.4:c.1854-893A>C | ENSP00000478360.1:n.1854-893A>C | |
| ENST00000621016.4:c.1866-905A>C | ENSP00000480664.1:n.1866-905A>C | |
| NM_004360.3:c.2448A>C , LRG_301t1:c.2448A>C | NP_004351.1:p.Lys816Asn | |
| XM_011523488.1:c.1713A>C | XP_011521790.1:p.Lys571Asn | |
| XM_011523489.1:c.1713A>C | XP_011521791.1:p.Lys571Asn | |
| NM_001317184.1:c.2265A>C | NP_001304113.1:p.Lys755Asn | |
| NM_001317185.1:c.900A>C | NP_001304114.1:p.Lys300Asn | |
| NM_001317186.1:c.483A>C | NP_001304115.1:p.Lys161Asn | |
| NM_004360.4:c.2448A>C | NP_004351.1:p.Lys816Asn | |
| NM_004360.5:c.2448A>C MANE Select | NP_004351.1:p.Lys816Asn | |
| NM_001317184.2:c.2265A>C | NP_001304113.1:p.Lys755Asn | |
| NM_001317185.2:c.900A>C | NP_001304114.1:p.Lys300Asn | |
| NM_001317186.2:c.483A>C | NP_001304115.1:p.Lys161Asn |