Linked Data
ClinVar Variation Id:
330516
dbSNP Id:
rs566213812
ExAC:
19:7605128 G / A
gnomAD v2:
19-7605128-G-A
gnomAD v3:
19-7540242-G-A
gnomAD v4:
19-7540242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7540242G>A , CM000681.2:g.7540242G>A | GRCh38 |
| NC_000019.9:g.7605128G>A , CM000681.1:g.7605128G>A | GRCh37 |
| NC_000019.8:g.7511128G>A | NCBI36 |
| NG_013374.1:g.11091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.648G>A MANE Select | ENSP00000473211.1:p.Pro216= | |
| ENST00000221249.10:c.531G>A | ENSP00000221249.5:p.Pro177= | |
| ENST00000414982.7:c.675G>A | ENSP00000407509.2:p.Pro225= | |
| ENST00000450331.7:c.531G>A | ENSP00000394348.2:p.Pro177= | |
| ENST00000545201.6:c.531G>A | ENSP00000443323.1:p.Pro177= | |
| ENST00000594551.1:c.115G>A | ||
| ENST00000595264.5:c.170G>A | ||
| ENST00000598462.1:n.439G>A | ||
| ENST00000600737.5:c.648G>A | ENSP00000473211.1:p.Pro216= | |
| ENST00000601001.5:c.531G>A | ENSP00000472631.1:p.Pro177= | |
| NM_001166111.1:c.675G>A | NP_001159583.1:p.Pro225= | |
| NM_001166112.1:c.531G>A | NP_001159584.1:p.Pro177= | |
| NM_001166113.1:c.531G>A | NP_001159585.1:p.Pro177= | |
| NM_001166114.1:c.648G>A | NP_001159586.1:p.Pro216= | |
| NM_006702.4:c.531G>A | NP_006693.3:p.Pro177= | |
| NM_001166111.2:c.675G>A | NP_001159583.1:p.Pro225= | |
| NM_001166114.2:c.648G>A MANE Select | NP_001159586.1:p.Pro216= | |
| NM_006702.5:c.531G>A | NP_006693.3:p.Pro177= | |
| NM_001166112.2:c.531G>A | NP_001159584.1:p.Pro177= |