Linked Data
ClinVar Variation Id:
402554
ClinVar RCV Id:
RCV000455425
dbSNP Id:
rs200112269
ExAC:
12:48371171 C / G
gnomAD v2:
12-48371171-C-G
gnomAD v3:
12-47977388-C-G
gnomAD v4:
12-47977388-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47977388C>G , CM000674.2:g.47977388C>G | GRCh38 |
| NC_000012.11:g.48371171C>G , CM000674.1:g.48371171C>G | GRCh37 |
| NC_000012.10:g.46657438C>G | NCBI36 |
| NG_008072.1:g.32115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2998G>C | ENSP00000338213.6:p.Ala1000Pro | |
| ENST00000380518.8:c.3205G>C MANE Select | ENSP00000369889.3:p.Ala1069Pro | |
| ENST00000337299.6:c.2998G>C | ENSP00000338213.6:p.Ala1000Pro | |
| ENST00000380518.7:c.3205G>C | ENSP00000369889.3:p.Ala1069Pro | |
| ENST00000493991.5:n.2291G>C | ||
| ENST00000546974.1:n.58G>C | ||
| NM_001844.4:c.3205G>C | NP_001835.3:p.Ala1069Pro | |
| NM_033150.2:c.2998G>C | NP_149162.2:p.Ala1000Pro | |
| XM_006719242.2:c.3349G>C | XP_006719305.2:p.Ala1117Pro | |
| XM_011537928.1:c.3349G>C | XP_011536230.1:p.Ala1117Pro | |
| XM_011537929.1:c.3349G>C | XP_011536231.1:p.Ala1117Pro | |
| XM_011537930.1:c.3349G>C | XP_011536232.1:p.Ala1117Pro | |
| XM_011537931.1:c.3349G>C | XP_011536233.1:p.Ala1117Pro | |
| XM_011537932.1:c.3349G>C | XP_011536234.1:p.Ala1117Pro | |
| XM_011537933.1:c.3349G>C | XP_011536235.1:p.Ala1117Pro | |
| XM_011537934.1:c.3346G>C | XP_011536236.1:p.Ala1116Pro | |
| XM_011537935.1:c.2293G>C | XP_011536237.1:p.Ala765Pro | |
| XM_017018828.1:c.3349G>C | XP_016874317.1:p.Ala1117Pro | |
| XM_017018829.1:c.3346G>C | XP_016874318.1:p.Ala1116Pro | |
| XM_017018830.1:c.3139G>C | XP_016874319.1:p.Ala1047Pro | |
| XM_017018831.2:c.2659G>C | XP_016874320.1:p.Ala887Pro | |
| NM_001844.5:c.3205G>C MANE Select | NP_001835.3:p.Ala1069Pro | |
| NM_033150.3:c.2998G>C | NP_149162.2:p.Ala1000Pro |