Linked Data
dbSNP Id:
rs750811424
ExAC:
7:151880235 C / T
gnomAD v2:
7-151880235-C-T
gnomAD v3:
7-152183150-C-T
gnomAD v4:
7-152183150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152183150C>T , CM000669.2:g.152183150C>T | GRCh38 |
| NC_000007.13:g.151880235C>T , CM000669.1:g.151880235C>T | GRCh37 |
| NC_000007.12:g.151511168C>T | NCBI36 |
| NG_033948.1:g.257856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682176.1:c.1808G>A | ||
| ENST00000682283.1:c.5089G>A | ENSP00000507485.1:p.Ala1697Thr | |
| ENST00000683159.1:c.576-556G>A | ||
| ENST00000683200.1:c.2437G>A | ENSP00000508052.1:p.Ala813Thr | |
| ENST00000262189.11:c.5089G>A MANE Select | ENSP00000262189.6:p.Ala1697Thr | |
| ENST00000360104.8:c.711G>A | ||
| ENST00000679645.1:c.*1182G>A | ENSP00000505745.1:n.*1182G>A | |
| ENST00000679882.1:c.4864G>A | ENSP00000506154.1:p.Ala1622Thr | |
| ENST00000680969.1:c.2485G>A | ENSP00000505951.1:p.Ala829Thr | |
| ENST00000681033.1:c.3787G>A | ENSP00000505058.1:p.Ala1263Thr | |
| ENST00000681755.1:n.14G>A | ||
| ENST00000262189.10:c.5089G>A | ENSP00000262189.6:p.Ala1697Thr | |
| ENST00000355193.6:c.5089G>A | ENSP00000347325.3:p.Ala1697Thr | |
| ENST00000473186.5:n.2800G>A | ||
| ENST00000558084.5:c.*2609G>A | ENSP00000453752.1:n.*2609G>A | |
| NM_170606.2:c.5089G>A | NP_733751.2:p.Ala1697Thr | |
| XM_005250025.3:c.5140G>A | XP_005250082.1:p.Ala1714Thr | |
| XM_005250026.2:c.5137G>A | XP_005250083.1:p.Ala1713Thr | |
| XM_005250027.3:c.5140G>A | XP_005250084.1:p.Ala1714Thr | |
| XM_005250028.3:c.5140G>A | XP_005250085.1:p.Ala1714Thr | |
| XM_005250031.3:c.5140G>A | XP_005250088.1:p.Ala1714Thr | |
| XM_006716077.2:c.5140G>A | XP_006716140.1:p.Ala1714Thr | |
| XM_006716078.2:c.5140G>A | XP_006716141.1:p.Ala1714Thr | |
| XM_006716079.2:c.5140G>A | XP_006716142.1:p.Ala1714Thr | |
| XM_011516450.1:c.5092G>A | XP_011514752.1:p.Ala1698Thr | |
| XM_011516451.1:c.5020G>A | XP_011514753.1:p.Ala1674Thr | |
| XM_011516452.1:c.4987G>A | XP_011514754.1:p.Ala1663Thr | |
| XM_011516453.1:c.5140G>A | XP_011514755.1:p.Ala1714Thr | |
| XM_011516454.1:c.4225G>A | XP_011514756.1:p.Ala1409Thr | |
| XM_011516455.1:c.2686G>A | XP_011514757.1:p.Ala896Thr | |
| XM_011516456.1:c.5092G>A | XP_011514758.1:p.Ala1698Thr | |
| XR_428183.2:n.5348G>A | ||
| XM_005250025.4:c.5140G>A | XP_005250082.1:p.Ala1714Thr | |
| XM_005250026.3:c.5137G>A | XP_005250083.1:p.Ala1713Thr | |
| XM_005250027.4:c.5140G>A | XP_005250084.1:p.Ala1714Thr | |
| XM_005250028.4:c.5140G>A | XP_005250085.1:p.Ala1714Thr | |
| XM_005250031.4:c.5140G>A | XP_005250088.1:p.Ala1714Thr | |
| XM_006716077.3:c.5140G>A | XP_006716140.1:p.Ala1714Thr | |
| XM_006716078.3:c.5140G>A | XP_006716141.1:p.Ala1714Thr | |
| XM_006716079.3:c.5140G>A | XP_006716142.1:p.Ala1714Thr | |
| XM_011516450.2:c.5092G>A | XP_011514752.1:p.Ala1698Thr | |
| XM_011516451.2:c.5020G>A | XP_011514753.1:p.Ala1674Thr | |
| XM_011516452.2:c.4987G>A | XP_011514754.1:p.Ala1663Thr | |
| XM_011516453.2:c.5140G>A | XP_011514755.1:p.Ala1714Thr | |
| XM_011516454.2:c.4225G>A | XP_011514756.1:p.Ala1409Thr | |
| XM_011516456.2:c.5092G>A | XP_011514758.1:p.Ala1698Thr | |
| XM_017012480.1:c.5140G>A | XP_016867969.1:p.Ala1714Thr | |
| XM_017012481.1:c.5137G>A | XP_016867970.1:p.Ala1713Thr | |
| XM_017012482.1:c.5140G>A | XP_016867971.1:p.Ala1714Thr | |
| XM_017012483.1:c.5140G>A | XP_016867972.1:p.Ala1714Thr | |
| XM_017012484.1:c.5107G>A | XP_016867973.1:p.Ala1703Thr | |
| XM_017012485.1:c.5089G>A | XP_016867974.1:p.Ala1697Thr | |
| XM_017012486.1:c.5140G>A | XP_016867975.1:p.Ala1714Thr | |
| XM_017012487.1:c.4993G>A | XP_016867976.1:p.Ala1665Thr | |
| XM_017012488.1:c.5134-556G>A | XP_016867977.1:n.5134-556G>A | |
| XM_017012489.1:c.1810G>A | XP_016867978.1:p.Ala604Thr | |
| XM_017012490.2:c.1414G>A | XP_016867979.1:p.Ala472Thr | |
| XM_024446852.1:c.5137G>A | XP_024302620.1:p.Ala1713Thr | |
| XM_024446853.1:c.5140G>A | XP_024302621.1:p.Ala1714Thr | |
| XR_428183.3:n.5372G>A | ||
| NM_170606.3:c.5089G>A MANE Select | NP_733751.2:p.Ala1697Thr |