Linked Data
dbSNP Id:
rs775023782
ExAC:
6:32007545 T / C
gnomAD v2:
6-32007545-T-C
gnomAD v4:
6-32039768-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039768T>C , CM000668.2:g.32039768T>C | GRCh38 |
| NC_000006.11:g.32007545T>C , CM000668.1:g.32007545T>C | GRCh37 |
| NC_000006.10:g.32115524T>C | NCBI36 |
| NG_007941.2:g.6461T>C | |
| NG_008337.2:g.74607A>G | |
| NG_007941.3:g.6464T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.671T>C MANE Select | ENSP00000496625.1:p.Leu224Pro | |
| ENST00000418967.6:c.671T>C | ENSP00000408860.2:p.Leu224Pro | |
| ENST00000435122.3:c.581T>C | ENSP00000415043.2:p.Leu194Pro | |
| ENST00000462278.1:n.360T>C | ||
| ENST00000466779.5:c.*363T>C | ENSP00000417321.1:n.*363T>C | |
| ENST00000466879.5:n.722T>C | ||
| ENST00000479074.5:n.729T>C | ||
| ENST00000479730.5:n.787T>C | ||
| ENST00000483041.5:n.840T>C | ||
| ENST00000486063.5:n.851T>C | ||
| NM_000500.7:c.671T>C | NP_000491.4:p.Leu224Pro | |
| NM_001128590.3:c.581T>C | NP_001122062.3:p.Leu194Pro | |
| XM_011514314.1:c.266T>C | XP_011512616.1:p.Leu89Pro | |
| NM_000500.9:c.671T>C MANE Select | NP_000491.4:p.Leu224Pro | |
| NM_001368143.1:c.266T>C | NP_001355072.1:p.Leu89Pro | |
| NM_001368144.1:c.266T>C | NP_001355073.1:p.Leu89Pro | |
| NM_001128590.4:c.581T>C | NP_001122062.3:p.Leu194Pro | |
| NM_001368143.2:c.266T>C | NP_001355072.1:p.Leu89Pro | |
| NM_001368144.2:c.266T>C | NP_001355073.1:p.Leu89Pro |