Linked Data
ClinVar Variation Id:
1878788
ClinVar RCV Id:
RCV002511289
dbSNP Id:
rs760140366
ExAC:
16:3778095 T / G
gnomAD v2:
16-3778095-T-G
gnomAD v3:
16-3728094-T-G
gnomAD v4:
16-3728094-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728094T>G , CM000678.2:g.3728094T>G | GRCh38 |
| NC_000016.9:g.3778095T>G , CM000678.1:g.3778095T>G | GRCh37 |
| NC_000016.8:g.3718096T>G | NCBI36 |
| NG_009873.1:g.157027A>C | |
| NG_009873.2:g.157620A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6953A>C MANE Select | ENSP00000262367.5:p.Gln2318Pro | |
| ENST00000262367.9:c.6953A>C | ENSP00000262367.5:p.Gln2318Pro | |
| ENST00000382070.7:c.6839A>C | ENSP00000371502.3:p.Gln2280Pro | |
| NM_001079846.1:c.6839A>C | NP_001073315.1:p.Gln2280Pro | |
| NM_004380.2:c.6953A>C | NP_004371.2:p.Gln2318Pro | |
| XM_005255124.3:c.6908A>C | XP_005255181.1:p.Gln2303Pro | |
| XM_005255125.3:c.6536A>C | XP_005255182.1:p.Gln2179Pro | |
| XM_006720848.2:c.6692A>C | XP_006720911.1:p.Gln2231Pro | |
| XM_011522380.1:c.6899A>C | XP_011520682.1:p.Gln2300Pro | |
| XM_011522381.1:c.6200A>C | XP_011520683.1:p.Gln2067Pro | |
| XM_005255124.4:c.6908A>C | XP_005255181.1:p.Gln2303Pro | |
| XM_005255125.4:c.6536A>C | XP_005255182.1:p.Gln2179Pro | |
| XM_006720848.3:c.6692A>C | XP_006720911.1:p.Gln2231Pro | |
| XM_011522381.2:c.6200A>C | XP_011520683.1:p.Gln2067Pro | |
| XM_017022944.1:c.6947A>C | XP_016878433.1:p.Gln2316Pro | |
| NM_004380.3:c.6953A>C MANE Select | NP_004371.2:p.Gln2318Pro |