Linked Data
ClinVar Variation Id:
418653
dbSNP Id:
rs1064793345
gnomAD v4:
10-87961039-T-C
ERepo:
CA16619068/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961039T>C , CM000672.2:g.87961039T>C | GRCh38 |
| NC_000010.10:g.89720796T>C , CM000672.1:g.89720796T>C | GRCh37 |
| NC_000010.9:g.89710776T>C | NCBI36 |
| NG_007466.2:g.102601T>C , LRG_311:g.102601T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1040T>C | ENSP00000514759.2:p.Leu347Pro | |
| ENST00000710265.1:c.947T>C | ENSP00000518161.1:p.Leu316Pro | |
| ENST00000472832.3:c.947T>C | ENSP00000483066.2:p.Leu316Pro | |
| ENST00000688158.2:n.1682T>C | ||
| ENST00000688922.2:c.*777T>C | ENSP00000508742.2:n.*777T>C | |
| ENST00000700021.1:c.902T>C | ENSP00000514757.1:p.Leu301Pro | |
| ENST00000700022.1:c.*286T>C | ENSP00000514758.1:n.*286T>C | |
| ENST00000700023.1:n.2105T>C | ||
| ENST00000700024.1:n.2339T>C | ||
| ENST00000700025.1:n.1716T>C | ||
| ENST00000700026.1:n.584T>C | ||
| ENST00000706954.1:c.947T>C | ENSP00000516674.1:p.Leu316Pro | |
| ENST00000706955.1:c.*982T>C | ENSP00000516675.1:n.*982T>C | |
| ENST00000686459.1:c.*533T>C | ENSP00000508909.1:n.*533T>C | |
| ENST00000688158.1:c.*1058T>C | ENSP00000509254.1:n.*1058T>C | |
| ENST00000688308.1:c.947T>C | ENSP00000508752.1:p.Leu316Pro | |
| ENST00000688922.1:c.868T>C | ||
| ENST00000693560.1:c.1466T>C | ENSP00000509861.1:p.Leu489Pro | |
| ENST00000371953.8:c.947T>C MANE Select | ENSP00000361021.3:p.Leu316Pro | |
| ENST00000371953.7:c.947T>C | ENSP00000361021.3:p.Leu316Pro | |
| ENST00000472832.2:c.374T>C | ENSP00000483066.1:p.Leu125Pro | |
| NM_000314.5:c.947T>C | NP_000305.3:p.Leu316Pro | |
| NM_000314.6:c.947T>C | NP_000305.3:p.Leu316Pro | |
| NM_001304717.2:c.1466T>C | NP_001291646.2:p.Leu489Pro | |
| NM_001304718.1:c.356T>C | NP_001291647.1:p.Leu119Pro | |
| XM_006717926.2:c.902T>C | XP_006717989.1:p.Leu301Pro | |
| XM_011539981.1:c.947T>C | XP_011538283.1:p.Leu316Pro | |
| XM_011539982.1:c.851T>C | XP_011538284.1:p.Leu284Pro | |
| XR_945791.1:n.1517T>C | ||
| NM_000314.7:c.947T>C | NP_000305.3:p.Leu316Pro | |
| NM_001304717.5:c.1466T>C | NP_001291646.4:p.Leu489Pro | |
| NM_001304718.2:c.356T>C | NP_001291647.1:p.Leu119Pro | |
| NM_000314.8:c.947T>C MANE Select | NP_000305.3:p.Leu316Pro |