Linked Data
ClinVar Variation Id:
133945
dbSNP Id:
rs531539047
ExAC:
16:3828057 C / A
gnomAD v2:
16-3828057-C-A
gnomAD v3:
16-3778056-C-A
gnomAD v4:
16-3778056-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778056C>A , CM000678.2:g.3778056C>A | GRCh38 |
| NC_000016.9:g.3828057C>A , CM000678.1:g.3828057C>A | GRCh37 |
| NC_000016.8:g.3768058C>A | NCBI36 |
| NG_009873.1:g.107065G>T | |
| NG_009873.2:g.107658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2068G>T MANE Select | ENSP00000262367.5:p.Ala690Ser | |
| ENST00000262367.9:c.2068G>T | ENSP00000262367.5:p.Ala690Ser | |
| ENST00000382070.7:c.1954G>T | ENSP00000371502.3:p.Ala652Ser | |
| ENST00000570939.2:c.673G>T | ENSP00000461002.2:p.Ala225Ser | |
| ENST00000571826.5:c.117G>T | ||
| ENST00000572134.1:c.381G>T | ||
| ENST00000634839.1:n.230G>T | ||
| NM_001079846.1:c.1954G>T | NP_001073315.1:p.Ala652Ser | |
| NM_004380.2:c.2068G>T | NP_004371.2:p.Ala690Ser | |
| XM_005255124.3:c.2068G>T | XP_005255181.1:p.Ala690Ser | |
| XM_005255125.3:c.2068G>T | XP_005255182.1:p.Ala690Ser | |
| XM_006720848.2:c.2068G>T | XP_006720911.1:p.Ala690Ser | |
| XM_011522380.1:c.2014G>T | XP_011520682.1:p.Ala672Ser | |
| XM_011522381.1:c.1315G>T | XP_011520683.1:p.Ala439Ser | |
| XM_011522382.1:c.2068G>T | XP_011520684.1:p.Ala690Ser | |
| XM_005255124.4:c.2068G>T | XP_005255181.1:p.Ala690Ser | |
| XM_005255125.4:c.2068G>T | XP_005255182.1:p.Ala690Ser | |
| XM_006720848.3:c.2068G>T | XP_006720911.1:p.Ala690Ser | |
| XM_011522381.2:c.1315G>T | XP_011520683.1:p.Ala439Ser | |
| XM_011522382.3:c.2068G>T | XP_011520684.1:p.Ala690Ser | |
| XM_017022944.1:c.2068G>T | XP_016878433.1:p.Ala690Ser | |
| NM_004380.3:c.2068G>T MANE Select | NP_004371.2:p.Ala690Ser |