Linked Data
ClinVar Variation Id:
1775429
ClinVar RCV Id:
RCV002405582
dbSNP Id:
rs1225681339
gnomAD v4:
9-128945735-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945735T>C , CM000671.2:g.128945735T>C | GRCh38 |
| NC_000009.11:g.131708014T>C , CM000671.1:g.131708014T>C | GRCh37 |
| NC_000009.10:g.130747835T>C | NCBI36 |
| NG_017009.1:g.6999A>G , LRG_744:g.6999A>G | |
| NG_033111.1:g.3043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1569A>G MANE Select | ENSP00000361667.3:p.Ile523Met | |
| ENST00000372586.3:c.1569A>G | ENSP00000361667.3:p.Ile523Met | |
| ENST00000482796.1:c.39-3454T>C | ENSP00000417556.2:n.39-3454T>C | |
| NM_014908.3:c.1569A>G , LRG_744t1:c.1569A>G | NP_055723.1:p.Ile523Met | |
| NM_014908.4:c.1569A>G MANE Select | NP_055723.1:p.Ile523Met |