Linked Data
ClinVar Variation Id:
36411
dbSNP Id:
rs193922358
ExAC:
13:28498711 C / T
gnomAD v2:
13-28498711-C-T
gnomAD v3:
13-27924574-C-T
gnomAD v4:
13-27924574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924574C>T , CM000675.2:g.27924574C>T | GRCh38 |
| NC_000013.10:g.28498711C>T , CM000675.1:g.28498711C>T | GRCh37 |
| NC_000013.9:g.27396711C>T | NCBI36 |
| NG_008183.1:g.9544C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381033.5:c.725C>T MANE Select | ENSP00000370421.4:p.Pro242Leu | |
| ENST00000381033.4:c.725C>T | ENSP00000370421.4:p.Pro242Leu | |
| NM_000209.3:c.725C>T | NP_000200.1:p.Pro242Leu | |
| NM_000209.4:c.725C>T MANE Select | NP_000200.1:p.Pro242Leu |