Linked Data
ClinVar Variation Id:
1523954
dbSNP Id:
rs780471127
ExAC:
4:6303341 C / G
gnomAD v2:
4-6303341-C-G
gnomAD v3:
4-6301614-C-G
gnomAD v4:
4-6301614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301614C>G , CM000666.2:g.6301614C>G | GRCh38 |
| NC_000004.11:g.6303341C>G , CM000666.1:g.6303341C>G | GRCh37 |
| NC_000004.10:g.6354242C>G | NCBI36 |
| NG_011700.1:g.36765C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1855C>G | ENSP00000507852.1:p.Pro619Ala | |
| ENST00000683395.1:c.1796C>G | ||
| ENST00000684087.1:c.1819C>G | ENSP00000506978.1:p.Pro607Ala | |
| ENST00000506362.2:c.1570C>G | ENSP00000424103.2:p.Pro524Ala | |
| ENST00000673642.1:c.1478C>G | ENSP00000501242.1:n.1478C>G | |
| ENST00000673991.1:c.1855C>G | ENSP00000501033.1:p.Pro619Ala | |
| ENST00000226760.5:c.1819C>G MANE Select | ENSP00000226760.1:p.Pro607Ala | |
| ENST00000503569.5:c.1819C>G | ENSP00000423337.1:p.Pro607Ala | |
| ENST00000507765.1:n.2004C>G | ||
| NM_001145853.1:c.1819C>G | NP_001139325.1:p.Pro607Ala | |
| NM_006005.3:c.1819C>G MANE Select | NP_005996.2:p.Pro607Ala | |
| XM_017008586.1:c.1828C>G | XP_016864075.1:p.Pro610Ala |