Linked Data
ClinVar Variation Id:
351988
dbSNP Id:
rs139697733
ExAC:
5:149275925 T / C
gnomAD v2:
5-149275925-T-C
gnomAD v3:
5-149896362-T-C
gnomAD v4:
5-149896362-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149896362T>C , CM000667.2:g.149896362T>C | GRCh38 |
| NC_000005.9:g.149275925T>C , CM000667.1:g.149275925T>C | GRCh37 |
| NC_000005.8:g.149256118T>C | NCBI36 |
| NG_009102.1:g.53432A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1614A>G MANE Select | ENSP00000255266.5:p.Pro538= | |
| ENST00000255266.9:c.1614A>G | ENSP00000255266.5:p.Pro538= | |
| ENST00000508173.5:n.1798A>G | ||
| ENST00000613228.1:c.1371A>G | ENSP00000478060.1:p.Pro457= | |
| ENST00000617647.4:c.1371A>G | ENSP00000482774.1:p.Pro457= | |
| NM_000440.2:c.1614A>G | NP_000431.2:p.Pro538= | |
| XM_011537648.1:c.1614A>G | XP_011535950.1:p.Pro538= | |
| XM_011537649.1:c.1068A>G | XP_011535951.1:p.Pro356= | |
| XM_011537650.1:c.729A>G | XP_011535952.1:p.Pro243= | |
| XM_011537651.1:c.567A>G | XP_011535953.1:p.Pro189= | |
| XM_011537652.1:c.537A>G | XP_011535954.1:p.Pro179= | |
| XM_011537653.1:c.537A>G | XP_011535955.1:p.Pro179= | |
| XM_011537654.1:c.537A>G | XP_011535956.1:p.Pro179= | |
| XM_011537650.2:c.729A>G | XP_011535952.1:p.Pro243= | |
| XM_011537651.2:c.567A>G | XP_011535953.1:p.Pro189= | |
| XM_011537653.2:c.537A>G | XP_011535955.1:p.Pro179= | |
| XM_011537654.2:c.537A>G | XP_011535956.1:p.Pro179= | |
| XM_017009572.2:c.1371A>G | XP_016865061.1:p.Pro457= | |
| NM_000440.3:c.1614A>G MANE Select | NP_000431.2:p.Pro538= |