Linked Data
ClinVar Variation Id:
1447589
ClinVar RCV Id:
RCV002011937
dbSNP Id:
rs143045136
ExAC:
19:13247081 C / G
gnomAD v2:
19-13247081-C-G
gnomAD v3:
19-13136267-C-G
gnomAD v4:
19-13136267-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13136267C>G , CM000681.2:g.13136267C>G | GRCh38 |
| NC_000019.9:g.13247081C>G , CM000681.1:g.13247081C>G | GRCh37 |
| NC_000019.8:g.13108081C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.982C>G | ENSP00000467120.2:p.Pro328Ala | |
| ENST00000700232.1:c.982C>G | ENSP00000514870.1:p.Pro328Ala | |
| ENST00000292431.5:c.982C>G MANE Select | ENSP00000292431.3:p.Pro328Ala | |
| ENST00000292431.4:c.982C>G | ENSP00000292431.3:p.Pro328Ala | |
| NM_052876.3:c.982C>G | NP_443108.1:p.Pro328Ala | |
| XM_005259721.2:c.982C>G | XP_005259778.1:p.Pro328Ala | |
| XM_005259721.3:c.982C>G | XP_005259778.1:p.Pro328Ala | |
| NM_052876.4:c.982C>G MANE Select | NP_443108.1:p.Pro328Ala |