Linked Data
dbSNP Id:
rs752959876
ExAC:
3:48607748 A / G
gnomAD v2:
3-48607748-A-G
gnomAD v4:
3-48570315-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570315A>G , CM000665.2:g.48570315A>G | GRCh38 |
| NC_000003.11:g.48607748A>G , CM000665.1:g.48607748A>G | GRCh37 |
| NC_000003.10:g.48582752A>G | NCBI36 |
| NG_007065.1:g.29938T>C , LRG_286:g.29938T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.7400T>C MANE Select | ENSP00000506558.1:p.Leu2467Pro | |
| ENST00000328333.12:c.7400T>C | ENSP00000332371.8:p.Leu2467Pro | |
| ENST00000422991.1:c.395T>C | ENSP00000391608.1:p.Leu132Pro | |
| ENST00000459756.5:n.127T>C | ||
| ENST00000467985.1:n.150T>C | ||
| ENST00000487017.5:n.4039T>C | ||
| NM_000094.3:c.7400T>C , LRG_286t1:c.7400T>C | NP_000085.1:p.Leu2467Pro | |
| XM_011533336.1:c.7427T>C | XP_011531638.1:p.Leu2476Pro | |
| XM_011533337.1:c.7400T>C | XP_011531639.1:p.Leu2467Pro | |
| XM_011533338.1:c.7408-137T>C | XP_011531640.1:n.7408-137T>C | |
| XM_011533339.1:c.7427T>C | XP_011531641.1:p.Leu2476Pro | |
| XM_011533340.1:c.7408-63T>C | XP_011531642.1:n.7408-63T>C | |
| XM_011533341.1:c.7382-63T>C | XP_011531643.1:n.7382-63T>C | |
| XM_011533342.1:c.7382-137T>C | XP_011531644.1:n.7382-137T>C | |
| XR_940369.1:n.7463T>C | ||
| XR_940370.1:n.7463T>C | ||
| XR_940371.1:n.7463T>C | ||
| XR_940372.1:n.7437T>C | ||
| XM_017005688.1:c.7381-137T>C | XP_016861177.1:n.7381-137T>C | |
| XM_017005689.1:c.7400T>C | XP_016861178.1:p.Leu2467Pro | |
| XM_017005690.1:c.7381-63T>C | XP_016861179.1:n.7381-63T>C | |
| XM_017005691.1:c.7355-63T>C | XP_016861180.1:n.7355-63T>C | |
| XM_017005692.1:c.7355-137T>C | XP_016861181.1:n.7355-137T>C | |
| XR_001740003.1:n.7436T>C | ||
| XR_001740004.1:n.7436T>C | ||
| XR_001740005.1:n.7436T>C | ||
| XR_001740006.1:n.7410T>C | ||
| NM_000094.4:c.7400T>C MANE Select | NP_000085.1:p.Leu2467Pro |