Linked Data
ClinVar Variation Id:
198690
dbSNP Id:
rs794727895
gnomAD v2:
15-42686500-C-T
gnomAD v4:
15-42394302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42394302C>T , CM000677.2:g.42394302C>T | GRCh38 |
| NC_000015.9:g.42686500C>T , CM000677.1:g.42686500C>T | GRCh37 |
| NC_000015.8:g.40473792C>T | NCBI36 |
| NG_008660.1:g.51200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.932C>T | ENSP00000183936.4:p.Pro311Leu | |
| ENST00000357568.8:c.1076C>T | ENSP00000350181.3:p.Pro359Leu | |
| ENST00000397163.8:c.1076C>T MANE Select | ENSP00000380349.3:p.Pro359Leu | |
| ENST00000466369.5:n.1585C>T | ||
| ENST00000483208.5:n.1307C>T | ||
| ENST00000495723.1:n.1307C>T | ||
| ENST00000549793.5:n.1307C>T | ||
| ENST00000638141.2:n.947C>T | ||
| ENST00000673658.1:n.60C>T | ||
| ENST00000673705.1:c.71-2498C>T | ENSP00000501021.1:n.71-2498C>T | |
| ENST00000318023.11:c.932C>T | ENSP00000326281.8:p.Pro311Leu | |
| ENST00000349748.7:c.932C>T | ENSP00000183936.4:p.Pro311Leu | |
| ENST00000357568.7:c.1076C>T | ENSP00000350181.3:p.Pro359Leu | |
| ENST00000397163.7:c.1076C>T | ENSP00000380349.3:p.Pro359Leu | |
| NM_000070.2:c.1076C>T | NP_000061.1:p.Pro359Leu | |
| NM_024344.1:c.1076C>T | NP_077320.1:p.Pro359Leu | |
| NM_173087.1:c.932C>T | NP_775110.1:p.Pro311Leu | |
| NM_000070.3:c.1076C>T MANE Select | NP_000061.1:p.Pro359Leu | |
| NM_024344.2:c.1076C>T | NP_077320.1:p.Pro359Leu | |
| NM_173087.2:c.932C>T | NP_775110.1:p.Pro311Leu |