Linked Data
ClinVar Variation Id:
636427
ClinVar RCV Id:
RCV000788255
dbSNP Id:
rs147365284
ExAC:
14:92353630 G / C
gnomAD v2:
14-92353630-G-C
gnomAD v3:
14-91887286-G-C
gnomAD v4:
14-91887286-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91887286G>C , CM000676.2:g.91887286G>C | GRCh38 |
| NC_000014.8:g.92353630G>C , CM000676.1:g.92353630G>C | GRCh37 |
| NC_000014.7:g.91423383G>C | NCBI36 |
| NG_008254.1:g.65417C>G , LRG_364:g.65417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*612C>G | ENSP00000451002.1:n.*612C>G | |
| ENST00000557570.2:c.478C>G | ENSP00000450787.2:p.Pro160Ala | |
| ENST00000706676.1:c.820C>G | ENSP00000516492.1:p.Pro274Ala | |
| ENST00000706677.1:c.646C>G | ENSP00000516493.1:p.Pro216Ala | |
| ENST00000706678.1:n.566C>G | ||
| ENST00000706679.1:c.478C>G | ENSP00000516494.1:p.Pro160Ala | |
| ENST00000706680.1:c.*489C>G | ENSP00000516495.1:n.*489C>G | |
| ENST00000706681.1:c.*385C>G | ENSP00000516496.1:n.*385C>G | |
| ENST00000342058.9:c.646C>G MANE Select | ENSP00000345008.4:p.Pro216Ala | |
| ENST00000267620.14:c.769C>G | ENSP00000267620.10:p.Pro257Ala | |
| ENST00000342058.8:c.646C>G | ENSP00000345008.4:p.Pro216Ala | |
| ENST00000556154.5:c.661C>G | ENSP00000451982.1:p.Pro221Ala | |
| NM_006329.3:c.646C>G , LRG_364t1:c.646C>G | NP_006320.2:p.Pro216Ala | |
| XM_005267267.3:c.697C>G | XP_005267324.1:p.Pro233Ala | |
| XM_011536356.1:c.697C>G | XP_011534658.1:p.Pro233Ala | |
| XM_011536357.1:c.646C>G | XP_011534659.1:p.Pro216Ala | |
| XM_011536358.1:c.478C>G | XP_011534660.1:p.Pro160Ala | |
| XM_011536357.2:c.646C>G | XP_011534659.1:p.Pro216Ala | |
| XM_011536358.2:c.478C>G | XP_011534660.1:p.Pro160Ala | |
| XM_017020929.2:c.478C>G | XP_016876418.1:p.Pro160Ala | |
| NM_001384158.1:c.769C>G | NP_001371087.1:p.Pro257Ala | |
| NM_001384159.1:c.697C>G | NP_001371088.1:p.Pro233Ala | |
| NM_001384160.1:c.646C>G | NP_001371089.1:p.Pro216Ala | |
| NM_001384161.1:c.478C>G | NP_001371090.1:p.Pro160Ala | |
| NM_001384162.1:c.478C>G | NP_001371091.1:p.Pro160Ala | |
| NM_006329.4:c.646C>G MANE Select | NP_006320.2:p.Pro216Ala |