Linked Data
ClinVar Variation Id:
1306517
ClinVar RCV Id:
RCV001770697
dbSNP Id:
rs1555100234
gnomAD v4:
12-5044901-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044901A>C , CM000674.2:g.5044901A>C | GRCh38 |
| NC_000012.11:g.5154067A>C , CM000674.1:g.5154067A>C | GRCh37 |
| NC_000012.10:g.5024328A>C | NCBI36 |
| NG_012198.1:g.5983A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.754A>C MANE Select | ENSP00000252321.3:p.Ile252Leu | |
| ENST00000252321.4:c.754A>C | ENSP00000252321.3:p.Ile252Leu | |
| NM_002234.3:c.754A>C | NP_002225.2:p.Ile252Leu | |
| NM_002234.4:c.754A>C MANE Select | NP_002225.2:p.Ile252Leu |