Linked Data
ClinVar Variation Id:
987818
ClinVar RCV Id:
RCV001269161
dbSNP Id:
rs2063786151
gnomAD v4:
20-44424147-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44424147T>C , CM000682.2:g.44424147T>C | GRCh38 |
| NC_000020.10:g.43052787T>C , CM000682.1:g.43052787T>C | GRCh37 |
| NC_000020.9:g.42486201T>C | NCBI36 |
| NG_009818.1:g.73347T>C , LRG_483:g.73347T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316673.9:c.956T>C MANE Select | ENSP00000315180.4:p.Leu319Pro | |
| ENST00000316099.10:c.1022T>C | ENSP00000312987.3:p.Leu341Pro | |
| ENST00000619550.5:c.996T>C | ||
| ENST00000316099.9:c.1022T>C | ENSP00000312987.3:p.Leu341Pro | |
| ENST00000316099.8:c.1022T>C | ENSP00000312987.3:p.Leu341Pro | |
| ENST00000316673.8:c.956T>C | ENSP00000315180.4:p.Leu319Pro | |
| ENST00000372920.1:c.*789T>C | ENSP00000362011.1:n.*789T>C | |
| ENST00000415691.2:c.1022T>C | ENSP00000412111.1:p.Leu341Pro | |
| ENST00000443598.6:c.1022T>C | ENSP00000410911.2:p.Leu341Pro | |
| ENST00000457232.5:c.956T>C | ENSP00000396216.1:p.Leu319Pro | |
| ENST00000609795.5:c.956T>C | ENSP00000476609.1:p.Leu319Pro | |
| ENST00000619550.4:c.947T>C | ENSP00000481331.1:p.Leu316Pro | |
| NM_000457.4:c.1022T>C , LRG_483t2:c.1022T>C | NP_000448.3:p.Leu341Pro | |
| NM_001030003.2:c.956T>C | NP_001025174.1:p.Leu319Pro | |
| NM_001030004.2:c.956T>C | NP_001025175.1:p.Leu319Pro | |
| NM_001258355.1:c.1001T>C | NP_001245284.1:p.Leu334Pro | |
| NM_001287182.1:c.947T>C | NP_001274111.1:p.Leu316Pro | |
| NM_001287183.1:c.947T>C , LRG_483t3:c.947T>C | NP_001274112.1:p.Leu316Pro | |
| NM_001287184.1:c.947T>C | NP_001274113.1:p.Leu316Pro | |
| NM_175914.4:c.956T>C , LRG_483t1:c.956T>C | NP_787110.2:p.Leu319Pro | |
| NM_178849.2:c.1022T>C | NP_849180.1:p.Leu341Pro | |
| NM_178850.2:c.1022T>C | NP_849181.1:p.Leu341Pro | |
| XM_005260407.2:c.1139T>C | XP_005260464.1:p.Leu380Pro | |
| XM_011528797.1:c.1070T>C | XP_011527099.1:p.Leu357Pro | |
| XM_011528798.1:c.1070T>C | XP_011527100.1:p.Leu357Pro | |
| XM_005260407.4:c.1139T>C | XP_005260464.1:p.Leu380Pro | |
| NM_001030003.3:c.956T>C | NP_001025174.1:p.Leu319Pro | |
| NM_001030004.3:c.956T>C | NP_001025175.1:p.Leu319Pro | |
| NM_001258355.2:c.1001T>C | NP_001245284.1:p.Leu334Pro | |
| NM_001287182.2:c.947T>C | NP_001274111.1:p.Leu316Pro | |
| NM_001287184.2:c.947T>C | NP_001274113.1:p.Leu316Pro | |
| NM_178849.3:c.1022T>C | NP_849180.1:p.Leu341Pro | |
| NM_178850.3:c.1022T>C | NP_849181.1:p.Leu341Pro | |
| NM_000457.5:c.1022T>C | NP_000448.3:p.Leu341Pro | |
| NM_000457.6:c.1022T>C | NP_000448.3:p.Leu341Pro | |
| NM_001287183.2:c.947T>C | NP_001274112.1:p.Leu316Pro | |
| NM_175914.5:c.956T>C MANE Select | NP_787110.2:p.Leu319Pro |