Linked Data
ClinVar Variation Id:
1735790
ClinVar RCV Id:
RCV002366302
dbSNP Id:
rs764700595
gnomAD v4:
16-68801893-G-A
MyVariant Identifiers:
chr16:g.68835796G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801893G>A , CM000678.2:g.68801893G>A | GRCh38 |
| NC_000016.9:g.68835796G>A , CM000678.1:g.68835796G>A | GRCh37 |
| NC_000016.8:g.67393297G>A | NCBI36 |
| NG_008021.1:g.69602G>A , LRG_301:g.69602G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.387G>A MANE Select | ENSP00000261769.4:p.Gln129= | |
| ENST00000261769.9:c.387G>A | ENSP00000261769.4:p.Gln129= | |
| ENST00000422392.6:c.387G>A | ENSP00000414946.2:p.Gln129= | |
| ENST00000561751.1:c.154G>A | ||
| ENST00000562836.5:n.458G>A | ||
| ENST00000564676.5:n.669G>A | ||
| ENST00000564745.1:n.382G>A | ||
| ENST00000566510.5:c.387G>A | ENSP00000458139.1:p.Gln129= | |
| ENST00000566612.5:c.387G>A | ENSP00000454782.1:p.Gln129= | |
| ENST00000611625.4:c.387G>A | ENSP00000481063.1:p.Gln129= | |
| ENST00000612417.4:c.387G>A | ENSP00000478360.1:p.Gln129= | |
| ENST00000621016.4:c.387G>A | ENSP00000480664.1:p.Gln129= | |
| NM_004360.3:c.387G>A , LRG_301t1:c.387G>A | NP_004351.1:p.Gln129= | |
| XM_011523488.1:c.-349G>A | XP_011521790.1:n.-349G>A | |
| XM_011523489.1:c.-349G>A | XP_011521791.1:n.-349G>A | |
| NM_001317184.1:c.387G>A | NP_001304113.1:p.Gln129= | |
| NM_001317185.1:c.-1229G>A | NP_001304114.1:n.-1229G>A | |
| NM_001317186.1:c.-1433G>A | NP_001304115.1:n.-1433G>A | |
| NM_004360.4:c.387G>A | NP_004351.1:p.Gln129= | |
| NM_004360.5:c.387G>A MANE Select | NP_004351.1:p.Gln129= | |
| NM_001317184.2:c.387G>A | NP_001304113.1:p.Gln129= | |
| NM_001317185.2:c.-1229G>A | NP_001304114.1:n.-1229G>A | |
| NM_001317186.2:c.-1433G>A | NP_001304115.1:n.-1433G>A |