Linked Data
ClinVar Variation Id:
342267
dbSNP Id:
rs12330369
ExAC:
3:10089723 G / A
gnomAD v2:
3-10089723-G-A
gnomAD v3:
3-10048039-G-A
gnomAD v4:
3-10048039-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10048039G>A , CM000665.2:g.10048039G>A | GRCh38 |
| NC_000003.11:g.10089723G>A , CM000665.1:g.10089723G>A | GRCh37 |
| NC_000003.10:g.10064723G>A | NCBI36 |
| NG_007311.1:g.26611G>A , LRG_306:g.26611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.485G>A | ||
| ENST00000682647.1:c.*1321G>A | ENSP00000506736.1:n.*1321G>A | |
| ENST00000683263.1:n.400G>A | ||
| ENST00000675286.1:c.1401G>A MANE Select | ENSP00000502379.1:p.Thr467= | |
| ENST00000676013.1:c.1401G>A | ENSP00000501999.1:p.Thr467= | |
| ENST00000287647.7:c.1401G>A | ENSP00000287647.3:p.Thr467= | |
| ENST00000383807.5:c.1401G>A | ENSP00000373318.1:p.Thr467= | |
| ENST00000419585.5:c.1401G>A | ENSP00000398754.1:p.Thr467= | |
| ENST00000464934.1:n.420G>A | ||
| ENST00000483276.1:n.485G>A | ||
| NM_001018115.1:c.1401G>A , LRG_306t1:c.1401G>A | NP_001018125.1:p.Thr467= | |
| NM_033084.3:c.1401G>A , LRG_306t2:c.1401G>A | NP_149075.2:p.Thr467= | |
| XM_005264946.2:c.1401G>A | XP_005265003.1:p.Thr467= | |
| XM_005264947.2:c.-521G>A | XP_005265004.1:n.-521G>A | |
| XM_006713021.2:c.1401G>A | XP_006713084.1:p.Thr467= | |
| XM_006713023.2:c.1401G>A | XP_006713086.1:p.Thr467= | |
| XM_006713024.2:c.1401G>A | XP_006713087.1:p.Thr467= | |
| XM_011533479.1:c.1401G>A | XP_011531781.1:p.Thr467= | |
| XM_011533480.1:c.252G>A | XP_011531782.1:p.Thr84= | |
| XR_940391.1:n.1521G>A | ||
| NM_001018115.2:c.1401G>A | NP_001018125.1:p.Thr467= | |
| NM_001319984.1:c.1401G>A | NP_001306913.1:p.Thr467= | |
| NM_033084.4:c.1401G>A | NP_149075.2:p.Thr467= | |
| NM_001018115.3:c.1401G>A MANE Select | NP_001018125.1:p.Thr467= | |
| NM_001319984.2:c.1401G>A | NP_001306913.1:p.Thr467= | |
| NM_001374253.1:c.1401G>A | NP_001361182.1:p.Thr467= | |
| NM_001374254.1:c.1401G>A | NP_001361183.1:p.Thr467= | |
| NM_033084.6:c.1401G>A | NP_149075.2:p.Thr467= |