Linked Data
ClinVar Variation Id:
209179
dbSNP Id:
rs201430951
ExAC:
14:32068514 T / C
gnomAD v2:
14-32068514-T-C
gnomAD v3:
14-31599308-T-C
gnomAD v4:
14-31599308-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31599308T>C , CM000676.2:g.31599308T>C | GRCh38 |
| NC_000014.8:g.32068514T>C , CM000676.1:g.32068514T>C | GRCh37 |
| NC_000014.7:g.31138265T>C | NCBI36 |
| NG_028349.1:g.42924T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281081.12:c.311T>C MANE Select | ENSP00000281081.7:p.Leu104Pro | |
| ENST00000281081.11:c.311T>C | ENSP00000281081.7:p.Leu104Pro | |
| ENST00000547839.5:c.311T>C | ENSP00000449918.1:p.Leu104Pro | |
| ENST00000548937.5:n.315T>C | ||
| ENST00000549838.5:c.275T>C | ENSP00000447658.1:p.Leu92Pro | |
| ENST00000550355.1:n.260T>C | ||
| ENST00000550649.5:c.291+34260T>C | ENSP00000447618.1:n.291+34260T>C | |
| ENST00000551314.1:c.155T>C | ENSP00000447234.1:p.Leu52Pro | |
| ENST00000552489.5:c.405T>C | ENSP00000447316.1:n.405T>C | |
| NM_001201573.1:c.23T>C | NP_001188502.1:p.Leu8Pro | |
| NM_025152.2:c.311T>C | NP_079428.2:p.Leu104Pro | |
| NR_120408.1:n.366T>C | ||
| XM_005268099.3:c.311T>C | XP_005268156.1:p.Leu104Pro | |
| XM_011537181.1:c.36T>C | XP_011535483.1:p.Ala12= | |
| XM_011537182.1:c.-145T>C | XP_011535484.1:n.-145T>C | |
| XM_011537183.1:c.311T>C | XP_011535485.1:p.Leu104Pro | |
| XM_011537181.2:c.36T>C | XP_011535483.1:p.Ala12= | |
| XM_011537182.2:c.-145T>C | XP_011535484.1:n.-145T>C | |
| XM_011537183.2:c.311T>C | XP_011535485.1:p.Leu104Pro | |
| XM_017021664.1:c.311T>C | XP_016877153.1:p.Leu104Pro | |
| XM_017021665.2:c.311T>C | XP_016877154.1:p.Leu104Pro | |
| XM_017021666.1:c.311T>C | XP_016877155.1:p.Leu104Pro | |
| XM_017021667.1:c.-73T>C | XP_016877156.1:n.-73T>C | |
| NM_025152.3:c.311T>C MANE Select | NP_079428.2:p.Leu104Pro | |
| NR_120408.2:n.347T>C | ||
| NM_001201573.2:c.23T>C | NP_001188502.1:p.Leu8Pro |