Linked Data
ClinVar Variation Id:
242799
ClinVar RCV Id:
RCV002519819
dbSNP Id:
rs121917848
gnomAD v2:
13-103703640-A-G
gnomAD v4:
13-103051290-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.103051290A>G , CM000675.2:g.103051290A>G | GRCh38 |
| NC_000013.10:g.103703640A>G , CM000675.1:g.103703640A>G | GRCh37 |
| NC_000013.9:g.102501641A>G | NCBI36 |
| NG_016648.1:g.20557T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245312.5:c.728T>C MANE Select | ENSP00000245312.3:p.Leu243Pro | |
| ENST00000245312.4:c.728T>C | ENSP00000245312.3:p.Leu243Pro | |
| NM_000452.2:c.728T>C | NP_000443.1:p.Leu243Pro | |
| NM_000452.3:c.728T>C MANE Select | NP_000443.2:p.Leu243Pro |