Linked Data
ClinVar Variation Id:
299403
dbSNP Id:
rs139990077
ExAC:
10:16941181 A / G
gnomAD v2:
10-16941181-A-G
gnomAD v3:
10-16899182-A-G
gnomAD v4:
10-16899182-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16899182A>G , CM000672.2:g.16899182A>G | GRCh38 |
| NC_000010.10:g.16941181A>G , CM000672.1:g.16941181A>G | GRCh37 |
| NC_000010.9:g.16981187A>G | NCBI36 |
| NG_008967.1:g.235636T>C , LRG_540:g.235636T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.8412T>C MANE Select | ENSP00000367064.4:p.Gly2804= | |
| ENST00000377833.8:c.8412T>C | ENSP00000367064.4:p.Gly2804= | |
| NM_001081.3:c.8412T>C , LRG_540t1:c.8412T>C | NP_001072.2:p.Gly2804= | |
| XM_011519708.1:c.8412T>C | XP_011518010.1:p.Gly2804= | |
| XM_011519709.1:c.4398T>C | XP_011518011.1:p.Gly1466= | |
| XM_011519710.1:c.4374T>C | XP_011518012.1:p.Gly1458= | |
| XM_011519711.1:c.4254T>C | XP_011518013.1:p.Gly1418= | |
| XM_011519708.2:c.8412T>C | XP_011518010.1:p.Gly2804= | |
| XM_011519709.2:c.4398T>C | XP_011518011.1:p.Gly1466= | |
| XM_011519710.2:c.4374T>C | XP_011518012.1:p.Gly1458= | |
| XM_011519711.3:c.4254T>C | XP_011518013.1:p.Gly1418= | |
| NM_001081.4:c.8412T>C MANE Select | NP_001072.2:p.Gly2804= |