Linked Data
ClinVar Variation Id:
294370
ClinVar RCV Id:
RCV000870521
dbSNP Id:
rs146222625
ExAC:
1:19201959 C / G
gnomAD v2:
1-19201959-C-G
gnomAD v3:
1-18875465-C-G
gnomAD v4:
1-18875465-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18875465C>G , CM000663.2:g.18875465C>G | GRCh38 |
| NC_000001.10:g.19201959C>G , CM000663.1:g.19201959C>G | GRCh37 |
| NC_000001.9:g.19074546C>G | NCBI36 |
| NG_012283.1:g.32335G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.1377G>C MANE Select | ENSP00000364490.3:p.Pro459= | |
| ENST00000290597.9:c.1377G>C | ENSP00000290597.5:p.Pro459= | |
| ENST00000375341.7:c.1377G>C | ENSP00000364490.3:p.Pro459= | |
| ENST00000494072.3:c.2429G>C | ||
| ENST00000538309.5:c.1197G>C | ENSP00000442988.1:p.Pro399= | |
| ENST00000538839.5:c.1224G>C | ENSP00000446071.1:p.Pro408= | |
| NM_001161504.1:c.1197G>C | NP_001154976.1:p.Pro399= | |
| NM_003748.3:c.1377G>C | NP_003739.2:p.Pro459= | |
| NM_170726.2:c.1377G>C | NP_733844.1:p.Pro459= | |
| XM_011542352.1:c.1224G>C | XP_011540654.1:p.Pro408= | |
| XM_011542353.1:c.*46G>C | XP_011540655.1:n.*46G>C | |
| XR_946786.1:n.1246G>C | ||
| NM_001319218.1:c.1224G>C | NP_001306147.1:p.Pro408= | |
| XR_001737510.1:n.1093G>C | ||
| NM_003748.4:c.1377G>C MANE Select | NP_003739.2:p.Pro459= | |
| NM_170726.3:c.1377G>C | NP_733844.1:p.Pro459= | |
| NM_001161504.2:c.1197G>C | NP_001154976.1:p.Pro399= | |
| NM_001319218.2:c.1224G>C | NP_001306147.1:p.Pro408= |