Linked Data
ClinVar Variation Id:
431053
ClinVar RCV Id:
RCV000590986
dbSNP Id:
rs199473442
gnomAD v4:
11-2445103-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445103C>G , CM000673.2:g.2445103C>G | GRCh38 |
| NC_000011.9:g.2466333C>G , CM000673.1:g.2466333C>G | GRCh37 |
| NC_000011.8:g.2422909C>G | NCBI36 |
| NG_008935.1:g.5113C>G , LRG_287:g.5113C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.24-280C>G | ENSP00000434560.2:n.24-280C>G | |
| ENST00000646564.2:c.5C>G | ENSP00000495806.2:p.Ala2Gly | |
| ENST00000155840.12:c.5C>G MANE Select | ENSP00000155840.2:p.Ala2Gly | |
| ENST00000155840.9:c.5C>G | ENSP00000155840.2:p.Ala2Gly | |
| ENST00000496887.6:c.24-280C>G | ENSP00000434560.1:n.24-280C>G | |
| NM_000218.2:c.5C>G , LRG_287t1:c.5C>G | NP_000209.2:p.Ala2Gly | |
| NM_000218.3:c.5C>G MANE Select | NP_000209.2:p.Ala2Gly |