Linked Data
ClinVar Variation Id:
787550
ClinVar RCV Id:
RCV000969802
dbSNP Id:
rs138250879
ExAC:
12:333248 A / G
gnomAD v2:
12-333248-A-G
gnomAD v3:
12-224082-A-G
gnomAD v4:
12-224082-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.224082A>G , CM000674.2:g.224082A>G | GRCh38 |
| NC_000012.11:g.333248A>G , CM000674.1:g.333248A>G | GRCh37 |
| NC_000012.10:g.203509A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343164.9:c.1221T>C MANE Select | ENSP00000339260.4:p.Pro407= | |
| ENST00000343164.8:c.1221T>C | ENSP00000339260.4:p.Pro407= | |
| ENST00000445055.6:c.945T>C | ENSP00000407104.2:p.Pro315= | |
| ENST00000539668.1:n.79T>C | ||
| ENST00000542379.1:n.220-848T>C | ||
| ENST00000543722.1:n.438T>C | ||
| NM_001190997.2:c.945T>C | NP_001177926.1:p.Pro315= | |
| NM_016615.4:c.1221T>C | NP_057699.2:p.Pro407= | |
| XM_005253749.2:c.1287T>C | XP_005253806.1:p.Pro429= | |
| XM_006719008.2:c.492T>C | XP_006719071.1:p.Pro164= | |
| XM_011521012.1:c.864T>C | XP_011519314.1:p.Pro288= | |
| XM_011521013.1:c.735T>C | XP_011519315.1:p.Pro245= | |
| XM_011521014.1:c.735T>C | XP_011519316.1:p.Pro245= | |
| XM_006719008.3:c.492T>C | XP_006719071.1:p.Pro164= | |
| XM_011521012.2:c.864T>C | XP_011519314.1:p.Pro288= | |
| XM_017019842.1:c.750T>C | XP_016875331.1:p.Pro250= | |
| XM_017019844.1:c.*23T>C | XP_016875333.1:n.*23T>C | |
| XM_017019845.1:c.492T>C | XP_016875334.1:p.Pro164= | |
| XR_001748849.1:n.1274T>C | ||
| XR_002957372.1:n.1346T>C | ||
| NM_016615.5:c.1221T>C MANE Select | NP_057699.2:p.Pro407= | |
| NM_001190997.3:c.945T>C | NP_001177926.1:p.Pro315= |