Linked Data
ClinVar Variation Id:
1449526
ClinVar RCV Id:
RCV002004631
dbSNP Id:
rs1428145562
gnomAD v2:
1-115252341-A-G
gnomAD v3:
1-114709720-A-G
gnomAD v4:
1-114709720-A-G
COSMIC:
COSM5044475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709720A>G , CM000663.2:g.114709720A>G | GRCh38 |
| NC_000001.10:g.115252341A>G , CM000663.1:g.115252341A>G | GRCh37 |
| NC_000001.9:g.115053864A>G | NCBI36 |
| NG_007572.1:g.12175T>C , LRG_92:g.12175T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.299T>C MANE Select | ENSP00000358548.4:p.Ile100Thr | |
| ENST00000369535.4:c.299T>C | ENSP00000358548.4:p.Ile100Thr | |
| NM_002524.4:c.299T>C | NP_002515.1:p.Ile100Thr | |
| NM_002524.5:c.299T>C MANE Select | NP_002515.1:p.Ile100Thr |