Linked Data
dbSNP Id:
rs901569872
gnomAD v3:
10-114044290-T-C
gnomAD v4:
10-114044290-T-C
COSMIC:
COSM6045529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044290T>C , CM000672.2:g.114044290T>C | GRCh38 |
| NC_000010.10:g.115804049T>C , CM000672.1:g.115804049T>C | GRCh37 |
| NC_000010.9:g.115794039T>C | NCBI36 |
| NG_012187.1:g.5244T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369295.4:c.158T>C MANE Select | ENSP00000358301.2:p.Leu53Pro | |
| ENST00000369295.3:c.158T>C | ENSP00000358301.2:p.Leu53Pro | |
| NM_000684.2:c.158T>C | NP_000675.1:p.Leu53Pro | |
| NM_000684.3:c.158T>C MANE Select | NP_000675.1:p.Leu53Pro |