Linked Data
ClinVar Variation Id:
345619
dbSNP Id:
rs181297174
ExAC:
3:47032943 G / C
gnomAD v2:
3-47032943-G-C
gnomAD v3:
3-46991453-G-C
gnomAD v4:
3-46991453-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46991453G>C , CM000665.2:g.46991453G>C | GRCh38 |
| NC_000003.11:g.47032943G>C , CM000665.1:g.47032943G>C | GRCh37 |
| NC_000003.10:g.47007947G>C | NCBI36 |
| NG_031914.1:g.16771G>C , LRG_568:g.16771G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.690G>C MANE Select | ENSP00000415034.2:p.Leu230= | |
| ENST00000651747.1:c.669G>C | ENSP00000499216.1:p.Leu223= | |
| ENST00000450053.7:c.690G>C | ENSP00000415034.2:p.Leu230= | |
| NM_015175.2:c.690G>C , LRG_568t1:c.690G>C | NP_055990.1:p.Leu230= | |
| XM_005264992.2:c.669G>C | XP_005265049.1:p.Leu223= | |
| XM_006713072.2:c.690G>C | XP_006713135.1:p.Leu230= | |
| XM_011533532.1:c.669G>C | XP_011531834.1:p.Leu223= | |
| XM_011533533.1:c.690G>C | XP_011531835.1:p.Leu230= | |
| XM_011533534.1:c.557-387G>C | XP_011531836.1:n.557-387G>C | |
| XM_011533535.1:c.150G>C | XP_011531837.1:p.Leu50= | |
| XM_011533536.1:c.36G>C | XP_011531838.1:p.Leu12= | |
| XR_940397.1:n.866G>C | ||
| XR_940398.1:n.866G>C | ||
| NM_001365116.1:c.669G>C | NP_001352045.1:p.Leu223= | |
| XM_006713072.3:c.690G>C | XP_006713135.1:p.Leu230= | |
| XM_011533533.2:c.690G>C | XP_011531835.1:p.Leu230= | |
| XM_017006010.1:c.690G>C | XP_016861499.1:p.Leu230= | |
| XM_017006011.1:c.669G>C | XP_016861500.1:p.Leu223= | |
| XM_017006012.1:c.690G>C | XP_016861501.1:p.Leu230= | |
| XM_017006013.1:c.690G>C | XP_016861502.1:p.Leu230= | |
| XM_017006014.1:c.669G>C | XP_016861503.1:p.Leu223= | |
| XM_017006015.1:c.557-387G>C | XP_016861504.1:n.557-387G>C | |
| XM_017006016.1:c.150G>C | XP_016861505.1:p.Leu50= | |
| XR_940397.2:n.866G>C | ||
| NM_001365116.2:c.669G>C | NP_001352045.1:p.Leu223= | |
| NM_015175.3:c.690G>C MANE Select | NP_055990.1:p.Leu230= |