Linked Data
ClinVar Variation Id:
41785
dbSNP Id:
rs386833398
ExAC:
16:68857442 G / A
gnomAD v2:
16-68857442-G-A
gnomAD v3:
16-68823539-G-A
gnomAD v4:
16-68823539-G-A
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823539G>A , CM000678.2:g.68823539G>A | GRCh38 |
| NC_000016.9:g.68857442G>A , CM000678.1:g.68857442G>A | GRCh37 |
| NC_000016.8:g.67414943G>A | NCBI36 |
| NG_008021.1:g.91248G>A , LRG_301:g.91248G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2077G>A MANE Select | ENSP00000261769.4:p.Gly693Ser | |
| ENST00000261769.9:c.2077G>A | ENSP00000261769.4:p.Gly693Ser | |
| ENST00000422392.6:c.1894G>A | ENSP00000414946.2:p.Gly632Ser | |
| ENST00000562118.1:n.295G>A | ||
| ENST00000562836.5:n.2148G>A | ||
| ENST00000566510.5:c.*743G>A | ENSP00000458139.1:n.*743G>A | |
| ENST00000566612.5:c.*317G>A | ENSP00000454782.1:n.*317G>A | |
| ENST00000611625.4:c.2140G>A | ENSP00000481063.1:p.Gly714Ser | |
| ENST00000612417.4:c.1830+1420G>A | ENSP00000478360.1:n.1830+1420G>A | |
| ENST00000621016.4:c.1865+1385G>A | ENSP00000480664.1:n.1865+1385G>A | |
| NM_004360.3:c.2077G>A , LRG_301t1:c.2077G>A | NP_004351.1:p.Gly693Ser | |
| XM_011523488.1:c.1342G>A | XP_011521790.1:p.Gly448Ser | |
| XM_011523489.1:c.1342G>A | XP_011521791.1:p.Gly448Ser | |
| NM_001317184.1:c.1894G>A | NP_001304113.1:p.Gly632Ser | |
| NM_001317185.1:c.529G>A | NP_001304114.1:p.Gly177Ser | |
| NM_001317186.1:c.112G>A | NP_001304115.1:p.Gly38Ser | |
| NM_004360.4:c.2077G>A | NP_004351.1:p.Gly693Ser | |
| NM_004360.5:c.2077G>A MANE Select | NP_004351.1:p.Gly693Ser | |
| NM_001317184.2:c.1894G>A | NP_001304113.1:p.Gly632Ser | |
| NM_001317185.2:c.529G>A | NP_001304114.1:p.Gly177Ser | |
| NM_001317186.2:c.112G>A | NP_001304115.1:p.Gly38Ser |