Linked Data
ClinVar Variation Id:
220309
ClinVar RCV Id:
RCV000206337
dbSNP Id:
rs199473441
gnomAD v4:
11-2445099-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445099A>T , CM000673.2:g.2445099A>T | GRCh38 |
| NC_000011.9:g.2466329A>T , CM000673.1:g.2466329A>T | GRCh37 |
| NC_000011.8:g.2422905A>T | NCBI36 |
| NG_008935.1:g.5109A>T , LRG_287:g.5109A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.24-284A>T | ENSP00000434560.2:n.24-284A>T | |
| ENST00000646564.2:c.1A>T | ENSP00000495806.2:p.Met1Leu | |
| ENST00000155840.12:c.1A>T MANE Select | ENSP00000155840.2:p.Met1Leu | |
| ENST00000155840.9:c.1A>T | ENSP00000155840.2:p.Met1Leu | |
| ENST00000496887.6:c.24-284A>T | ENSP00000434560.1:n.24-284A>T | |
| NM_000218.2:c.1A>T , LRG_287t1:c.1A>T | NP_000209.2:p.Met1Leu | |
| NM_000218.3:c.1A>T MANE Select | NP_000209.2:p.Met1Leu |