Linked Data
ClinVar Variation Id:
1938560
ClinVar RCV Id:
RCV002646411
dbSNP Id:
rs147315419
gnomAD v3:
16-3589048-C-A
gnomAD v4:
16-3589048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589048C>A , CM000678.2:g.3589048C>A | GRCh38 |
| NC_000016.9:g.3639049C>A , CM000678.1:g.3639049C>A | GRCh37 |
| NC_000016.8:g.3579050C>A | NCBI36 |
| NG_028123.1:g.27537G>T , LRG_503:g.27537G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.4590G>T MANE Select | ENSP00000294008.3:p.Met1530Ile | |
| ENST00000294008.3:c.4590G>T | ENSP00000294008.3:p.Met1530Ile | |
| NM_032444.2:c.4590G>T , LRG_503t1:c.4590G>T | NP_115820.2:p.Met1530Ile | |
| XM_011522715.1:c.4590G>T | XP_011521017.1:p.Met1530Ile | |
| NM_032444.3:c.4590G>T | NP_115820.2:p.Met1530Ile | |
| XM_011522715.3:c.4590G>T | XP_011521017.1:p.Met1530Ile | |
| XM_017023775.2:c.3768G>T | XP_016879264.1:p.Met1256Ile | |
| XM_024450471.1:c.4590G>T | XP_024306239.1:p.Met1530Ile | |
| NM_032444.4:c.4590G>T MANE Select | NP_115820.2:p.Met1530Ile |