Linked Data
ClinVar Variation Id:
522868
dbSNP Id:
rs1483165002
gnomAD v2:
11-68702864-T-C
gnomAD v3:
11-68935396-T-C
gnomAD v4:
11-68935396-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68935396T>C , CM000673.2:g.68935396T>C | GRCh38 |
| NC_000011.9:g.68702864T>C , CM000673.1:g.68702864T>C | GRCh37 |
| NC_000011.8:g.68459440T>C | NCBI36 |
| NG_007976.1:g.36546T>C , LRG_250:g.36546T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.1730T>C MANE Select | ENSP00000255078.4:p.Leu577Pro | |
| ENST00000674955.1:c.*447T>C | ENSP00000502463.1:n.*447T>C | |
| ENST00000675118.1:c.1218T>C | ||
| ENST00000675615.1:c.1730T>C | ENSP00000502413.1:p.Leu577Pro | |
| ENST00000675648.1:n.1105T>C | ||
| ENST00000676173.1:n.2475T>C | ||
| ENST00000676182.1:c.161T>C | ||
| ENST00000676228.1:c.*1053T>C | ENSP00000502375.1:n.*1053T>C | |
| ENST00000255078.7:c.1730T>C | ENSP00000255078.3:p.Leu577Pro | |
| ENST00000539064.5:n.1489T>C | ||
| ENST00000541229.5:n.425T>C | ||
| ENST00000543739.5:n.749+838T>C | ||
| ENST00000545475.1:n.326T>C | ||
| NM_002180.2:c.1730T>C , LRG_250t1:c.1730T>C | NP_002171.2:p.Leu577Pro | |
| XM_005273974.2:c.719T>C | XP_005274031.1:p.Leu240Pro | |
| XM_005273975.2:c.602T>C | XP_005274032.1:p.Leu201Pro | |
| XM_011544994.1:c.497T>C | XP_011543296.1:p.Leu166Pro | |
| XR_949903.1:n.1832T>C | ||
| XM_005273975.3:c.602T>C | XP_005274032.1:p.Leu201Pro | |
| XM_017017669.2:c.719T>C | XP_016873158.1:p.Leu240Pro | |
| XM_017017670.2:c.719T>C | XP_016873159.1:p.Leu240Pro | |
| XM_017017671.2:c.*57T>C | XP_016873160.1:n.*57T>C | |
| XR_949903.3:n.1828T>C | ||
| NM_002180.3:c.1730T>C MANE Select | NP_002171.2:p.Leu577Pro |