Linked Data
ClinVar Variation Id:
5374
dbSNP Id:
rs121918342
ExAC:
7:137791367 C / T
gnomAD v2:
7-137791367-C-T
gnomAD v3:
7-138106621-C-T
gnomAD v4:
7-138106621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138106621C>T , CM000669.2:g.138106621C>T | GRCh38 |
| NC_000007.13:g.137791367C>T , CM000669.1:g.137791367C>T | GRCh37 |
| NC_000007.12:g.137441907C>T | NCBI36 |
| NG_023342.1:g.35190C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242375.8:c.593C>T MANE Select | ENSP00000242375.3:p.Pro198Leu | |
| ENST00000242375.7:c.593C>T | ENSP00000242375.3:p.Pro198Leu | |
| ENST00000411726.6:c.470C>T | ENSP00000402374.2:p.Pro157Leu | |
| ENST00000432161.5:c.593C>T | ENSP00000389197.1:p.Pro198Leu | |
| ENST00000468877.2:n.503C>T | ||
| NM_001190906.1:c.470C>T | NP_001177835.1:p.Pro157Leu | |
| NM_001190907.1:c.593C>T | NP_001177836.1:p.Pro198Leu | |
| NM_005989.3:c.593C>T | NP_005980.1:p.Pro198Leu | |
| NM_005989.4:c.593C>T MANE Select | NP_005980.1:p.Pro198Leu | |
| NM_001190906.2:c.470C>T | NP_001177835.1:p.Pro157Leu | |
| NM_001190907.2:c.593C>T | NP_001177836.1:p.Pro198Leu |