Linked Data
ClinVar Variation Id:
1466357
ClinVar RCV Id:
RCV001959481
dbSNP Id:
rs575693594
gnomAD v4:
1-114709719-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709719A>C , CM000663.2:g.114709719A>C | GRCh38 |
| NC_000001.10:g.115252340A>C , CM000663.1:g.115252340A>C | GRCh37 |
| NC_000001.9:g.115053863A>C | NCBI36 |
| NG_007572.1:g.12176T>G , LRG_92:g.12176T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.300T>G MANE Select | ENSP00000358548.4:p.Ile100Met | |
| ENST00000369535.4:c.300T>G | ENSP00000358548.4:p.Ile100Met | |
| NM_002524.4:c.300T>G | NP_002515.1:p.Ile100Met | |
| NM_002524.5:c.300T>G MANE Select | NP_002515.1:p.Ile100Met |