Linked Data
ClinVar Variation Id:
464876
dbSNP Id:
rs780528629
ExAC:
1:33272110 C / G
gnomAD v2:
1-33272110-C-G
gnomAD v3:
1-32806509-C-G
gnomAD v4:
1-32806509-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32806509C>G , CM000663.2:g.32806509C>G | GRCh38 |
| NC_000001.10:g.33272110C>G , CM000663.1:g.33272110C>G | GRCh37 |
| NC_000001.9:g.33044697C>G | NCBI36 |
| NG_008408.1:g.16524G>C , LRG_273:g.16524G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.336G>C | ENSP00000502019.1:p.Leu112= | |
| ENST00000373477.9:c.483G>C MANE Select | ENSP00000362576.4:p.Leu161= | |
| ENST00000481895.6:c.483G>C | ENSP00000502016.1:p.Leu161= | |
| ENST00000616261.2:c.483G>C | ENSP00000484192.2:p.Leu161= | |
| ENST00000674629.1:c.*31G>C | ENSP00000502470.1:n.*31G>C | |
| ENST00000674654.1:c.380+4082G>C | ENSP00000501729.1:n.380+4082G>C | |
| ENST00000675785.1:c.336G>C | ENSP00000502019.1:p.Leu112= | |
| ENST00000676297.1:c.483G>C | ENSP00000501596.1:p.Leu161= | |
| ENST00000373477.8:c.483G>C | ENSP00000362576.4:p.Leu161= | |
| ENST00000470377.1:n.72G>C | ||
| ENST00000481895.5:n.556G>C | ||
| ENST00000616261.1:c.483G>C | ENSP00000484192.1:p.Leu161= | |
| NM_003680.3:c.483G>C , LRG_273t1:c.483G>C | NP_003671.1:p.Leu161= | |
| XM_011542347.1:c.-148G>C | XP_011540649.1:n.-148G>C | |
| XM_011542348.1:c.-195G>C | XP_011540650.1:n.-195G>C | |
| XM_011542347.2:c.-148G>C | XP_011540649.1:n.-148G>C | |
| XM_017002651.2:c.-195G>C | XP_016858140.1:n.-195G>C | |
| NM_003680.4:c.483G>C MANE Select | NP_003671.1:p.Leu161= |