Linked Data
dbSNP Id:
rs1271144126
gnomAD v2:
8-144657178-A-G
gnomAD v3:
8-143575008-A-G
gnomAD v4:
8-143575008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575008A>G , CM000670.2:g.143575008A>G | GRCh38 |
| NC_000008.10:g.144657178A>G , CM000670.1:g.144657178A>G | GRCh37 |
| NC_000008.9:g.144728321A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1532T>C MANE Select | ENSP00000401508.2:p.Leu511Pro | |
| ENST00000340490.7:c.1532T>C | ENSP00000341136.3:p.Leu511Pro | |
| ENST00000426292.7:c.1493T>C | ENSP00000390949.3:p.Leu498Pro | |
| ENST00000435154.7:c.*156T>C | ENSP00000405670.3:n.*156T>C | |
| ENST00000449291.6:c.1532T>C | ENSP00000401508.2:p.Leu511Pro | |
| ENST00000460623.5:c.471T>C | ||
| ENST00000464332.5:n.1076T>C | ||
| ENST00000498076.5:n.311T>C | ||
| ENST00000529179.1:n.316T>C | ||
| NM_001286829.1:c.1493T>C | NP_001273758.1:p.Leu498Pro | |
| NM_145201.5:c.1532T>C | NP_660202.3:p.Leu511Pro | |
| XM_011517377.1:c.1292-108T>C | XP_011515679.1:n.1292-108T>C | |
| NM_001363145.1:c.1451T>C | NP_001350074.1:p.Leu484Pro | |
| NM_001363146.1:c.848T>C | NP_001350075.1:p.Leu283Pro | |
| XM_017013975.2:c.1751T>C | XP_016869464.1:p.Leu584Pro | |
| XM_017013976.2:c.1751T>C | XP_016869465.1:p.Leu584Pro | |
| XM_017013977.2:c.1451T>C | XP_016869466.1:p.Leu484Pro | |
| XM_017013978.2:c.1511-108T>C | XP_016869467.1:n.1511-108T>C | |
| XM_017013979.2:c.848T>C | XP_016869468.1:p.Leu283Pro | |
| XM_024447332.1:c.929-108T>C | XP_024303100.1:n.929-108T>C | |
| XM_024447333.1:c.767T>C | XP_024303101.1:p.Leu256Pro | |
| NM_145201.6:c.1532T>C MANE Select | NP_660202.3:p.Leu511Pro | |
| NM_001286829.2:c.1493T>C | NP_001273758.1:p.Leu498Pro |