Linked Data
ClinVar Variation Id:
136327
dbSNP Id:
rs12116440
ExAC:
1:33478877 C / T
gnomAD v2:
1-33478877-C-T
gnomAD v3:
1-33013276-C-T
gnomAD v4:
1-33013276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33013276C>T , CM000663.2:g.33013276C>T | GRCh38 |
| NC_000001.10:g.33478877C>T , CM000663.1:g.33478877C>T | GRCh37 |
| NC_000001.9:g.33251464C>T | NCBI36 |
| NG_016269.1:g.28616G>A , LRG_133:g.28616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.1777G>A | ||
| ENST00000491241.2:c.*614G>A | ENSP00000512049.1:n.*614G>A | |
| ENST00000550338.6:c.*614G>A | ENSP00000450008.1:n.*614G>A | |
| ENST00000695598.1:n.1764G>A | ||
| ENST00000695599.1:c.*5507G>A | ENSP00000512046.1:n.*5507G>A | |
| ENST00000695600.1:n.1939G>A | ||
| ENST00000695601.1:c.*614G>A | ENSP00000512047.1:n.*614G>A | |
| ENST00000695602.1:c.*614G>A | ENSP00000512048.1:n.*614G>A | |
| ENST00000695603.1:n.1777G>A | ||
| ENST00000695604.1:c.*431G>A | ENSP00000512050.1:n.*431G>A | |
| ENST00000354858.11:c.499G>A | ENSP00000346921.7:p.Ala167Thr | |
| ENST00000373449.7:c.625G>A | ENSP00000362548.2:p.Ala209Thr | |
| ENST00000672308.1:n.660G>A | ||
| ENST00000672715.1:c.625G>A MANE Select | ENSP00000499935.1:p.Ala209Thr | |
| ENST00000354858.10:c.625G>A | ENSP00000346921.6:p.Ala209Thr | |
| ENST00000373449.6:c.625G>A | ENSP00000362548.2:p.Ala209Thr | |
| ENST00000467905.5:c.625G>A | ENSP00000447082.1:p.Ala209Thr | |
| ENST00000480134.5:c.*128G>A | ENSP00000450109.1:n.*128G>A | |
| ENST00000491241.1:n.12G>A | ||
| ENST00000548033.5:c.499G>A | ENSP00000449003.1:p.Ala167Thr | |
| ENST00000550338.5:c.*614G>A | ENSP00000450008.1:n.*614G>A | |
| ENST00000629371.2:c.*128G>A | ENSP00000486507.1:n.*128G>A | |
| NM_001199199.1:c.601G>A | NP_001186128.1:p.Ala201Thr | |
| NM_001625.3:c.625G>A | NP_001616.1:p.Ala209Thr | |
| NM_013411.4:c.625G>A | NP_037543.1:p.Ala209Thr | |
| NR_037591.1:n.826G>A | ||
| NR_037592.1:n.826G>A | ||
| XM_011540967.1:c.*128G>A | XP_011539269.1:n.*128G>A | |
| XR_246248.1:n.665G>A | ||
| XR_946575.1:n.570G>A | ||
| NM_001319139.1:c.481G>A | NP_001306068.1:p.Ala161Thr | |
| NM_001319140.1:c.481G>A | NP_001306069.1:p.Ala161Thr | |
| NM_001319141.1:c.625G>A | NP_001306070.1:p.Ala209Thr | |
| NM_001319142.1:c.499G>A | NP_001306071.1:p.Ala167Thr | |
| NM_001319143.1:c.*128G>A | NP_001306072.1:n.*128G>A | |
| NR_134976.1:n.613G>A | ||
| XR_001737036.1:n.570G>A | ||
| XR_246248.2:n.665G>A | ||
| NM_001199199.2:c.601G>A | NP_001186128.1:p.Ala201Thr | |
| NM_001319139.2:c.481G>A | NP_001306068.1:p.Ala161Thr | |
| NM_001319141.2:c.625G>A | NP_001306070.1:p.Ala209Thr | |
| NM_001319142.2:c.499G>A | NP_001306071.1:p.Ala167Thr | |
| NM_001625.4:c.625G>A MANE Select | NP_001616.1:p.Ala209Thr | |
| NM_013411.5:c.625G>A | NP_037543.1:p.Ala209Thr | |
| NR_134976.2:n.585G>A | ||
| NM_001199199.3:c.601G>A | NP_001186128.1:p.Ala201Thr | |
| NM_001319139.3:c.481G>A | NP_001306068.1:p.Ala161Thr | |
| NM_001319140.2:c.481G>A | NP_001306069.1:p.Ala161Thr | |
| NM_001319141.3:c.625G>A | NP_001306070.1:p.Ala209Thr | |
| NM_001319142.3:c.499G>A | NP_001306071.1:p.Ala167Thr | |
| NM_001319143.2:c.*128G>A | NP_001306072.1:n.*128G>A | |
| NR_134976.3:n.585G>A |