Linked Data
ClinVar Variation Id:
133925
dbSNP Id:
rs139050013
ExAC:
16:3820912 G / T
gnomAD v2:
16-3820912-G-T
gnomAD v3:
16-3770911-G-T
gnomAD v4:
16-3770911-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3770911G>T , CM000678.2:g.3770911G>T | GRCh38 |
| NC_000016.9:g.3820912G>T , CM000678.1:g.3820912G>T | GRCh37 |
| NC_000016.8:g.3760913G>T | NCBI36 |
| NG_009873.1:g.114210C>A | |
| NG_009873.2:g.114803C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2539C>A MANE Select | ENSP00000262367.5:p.Pro847Thr | |
| ENST00000262367.9:c.2539C>A | ENSP00000262367.5:p.Pro847Thr | |
| ENST00000382070.7:c.2425C>A | ENSP00000371502.3:p.Pro809Thr | |
| ENST00000570939.2:c.1144C>A | ENSP00000461002.2:p.Pro382Thr | |
| NM_001079846.1:c.2425C>A | NP_001073315.1:p.Pro809Thr | |
| NM_004380.2:c.2539C>A | NP_004371.2:p.Pro847Thr | |
| XM_005255124.3:c.2494C>A | XP_005255181.1:p.Pro832Thr | |
| XM_005255125.3:c.2464-1558C>A | XP_005255182.1:n.2464-1558C>A | |
| XM_006720848.2:c.2539C>A | XP_006720911.1:p.Pro847Thr | |
| XM_011522380.1:c.2485C>A | XP_011520682.1:p.Pro829Thr | |
| XM_011522381.1:c.1786C>A | XP_011520683.1:p.Pro596Thr | |
| XM_011522382.1:c.2539C>A | XP_011520684.1:p.Pro847Thr | |
| XM_005255124.4:c.2494C>A | XP_005255181.1:p.Pro832Thr | |
| XM_005255125.4:c.2464-1558C>A | XP_005255182.1:n.2464-1558C>A | |
| XM_006720848.3:c.2539C>A | XP_006720911.1:p.Pro847Thr | |
| XM_011522381.2:c.1786C>A | XP_011520683.1:p.Pro596Thr | |
| XM_011522382.3:c.2539C>A | XP_011520684.1:p.Pro847Thr | |
| XM_017022944.1:c.2533C>A | XP_016878433.1:p.Pro845Thr | |
| NM_004380.3:c.2539C>A MANE Select | NP_004371.2:p.Pro847Thr |