Linked Data
ClinVar Variation Id:
1157231
ClinVar RCV Id:
RCV001500246
dbSNP Id:
rs2138597355
MyVariant Identifiers:
chr14:g.23862161G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23392952G>A , CM000676.2:g.23392952G>A | GRCh38 |
| NC_000014.8:g.23862161G>A , CM000676.1:g.23862161G>A | GRCh37 |
| NC_000014.7:g.22932001G>A | NCBI36 |
| NG_023444.1:g.20326C>T , LRG_389:g.20326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.3211C>T MANE Select | ENSP00000386041.3:p.Leu1071= | |
| ENST00000356287.3:c.3211C>T | ENSP00000348634.3:p.Leu1071= | |
| ENST00000405093.7:c.3211C>T | ENSP00000386041.3:p.Leu1071= | |
| NM_002471.3:c.3211C>T , LRG_389t1:c.3211C>T | NP_002462.2:p.Leu1071= | |
| NM_002471.4:c.3211C>T MANE Select | NP_002462.2:p.Leu1071= |