Linked Data
ClinVar Variation Id:
2043640
ClinVar RCV Id:
RCV002913145
dbSNP Id:
rs371618619
ExAC:
13:23912493 A / G
gnomAD v2:
13-23912493-A-G
gnomAD v4:
13-23338354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338354A>G , CM000675.2:g.23338354A>G | GRCh38 |
| NC_000013.10:g.23912493A>G , CM000675.1:g.23912493A>G | GRCh37 |
| NC_000013.9:g.22810493A>G | NCBI36 |
| NG_012342.1:g.100349T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15431T>C | ENSP00000508399.1:n.2185+15431T>C | |
| ENST00000682944.1:c.5549T>C | ENSP00000507173.1:p.Leu1850Pro | |
| ENST00000683210.1:c.2185+15431T>C | ENSP00000506739.1:n.2185+15431T>C | |
| ENST00000683270.1:c.5513T>C | ENSP00000507624.1:p.Leu1838Pro | |
| ENST00000683367.1:c.2177-8870T>C | ENSP00000507780.1:n.2177-8870T>C | |
| ENST00000683489.1:c.2291+3231T>C | ENSP00000508403.1:n.2291+3231T>C | |
| ENST00000683680.1:c.2318+3231T>C | ENSP00000507223.1:n.2318+3231T>C | |
| ENST00000684163.1:c.2203+8457T>C | ENSP00000508262.1:n.2203+8457T>C | |
| ENST00000684196.1:n.4543-8870T>C | ||
| ENST00000684325.1:c.2185+15431T>C | ENSP00000508121.1:n.2185+15431T>C | |
| ENST00000684385.1:c.2220+8457T>C | ENSP00000507855.1:n.2220+8457T>C | |
| ENST00000684497.1:c.2185+15431T>C | ENSP00000507057.1:n.2185+15431T>C | |
| ENST00000382292.9:c.5522T>C MANE Select | ENSP00000371729.3:p.Leu1841Pro | |
| ENST00000423156.2:c.2186-8870T>C | ENSP00000390925.2:n.2186-8870T>C | |
| ENST00000455470.6:c.2431+3091T>C | ENSP00000406565.2:n.2431+3091T>C | |
| ENST00000382292.7:c.5522T>C | ENSP00000371729.3:p.Leu1841Pro | |
| ENST00000382298.7:c.5522T>C | ENSP00000371735.3:p.Leu1841Pro | |
| ENST00000402364.1:c.3272T>C | ENSP00000385844.1:p.Leu1091Pro | |
| ENST00000423156.1:c.1058-8870T>C | ENSP00000390925.1:n.1058-8870T>C | |
| ENST00000455470.5:c.2129+3091T>C | ||
| NM_001278055.1:c.5081T>C | NP_001264984.1:p.Leu1694Pro | |
| NM_014363.5:c.5522T>C | NP_055178.3:p.Leu1841Pro | |
| XM_005266338.1:c.5549T>C | XP_005266395.1:p.Leu1850Pro | |
| XM_011535038.1:c.5573T>C | XP_011533340.1:p.Leu1858Pro | |
| XM_011535039.1:c.5540T>C | XP_011533341.1:p.Leu1847Pro | |
| XM_005266338.2:c.5549T>C | XP_005266395.1:p.Leu1850Pro | |
| XM_011535039.2:c.5540T>C | XP_011533341.1:p.Leu1847Pro | |
| XM_017020539.1:c.5513T>C | XP_016876028.1:p.Leu1838Pro | |
| XM_024449337.1:c.5549T>C | XP_024305105.1:p.Leu1850Pro | |
| NM_014363.6:c.5522T>C MANE Select | NP_055178.3:p.Leu1841Pro | |
| NM_001278055.2:c.5081T>C | NP_001264984.1:p.Leu1694Pro |