Linked Data
ClinVar Variation Id:
1985982
ClinVar RCV Id:
RCV002805389
dbSNP Id:
rs1558747231
gnomAD v4:
2-135833148-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833148T>C , CM000664.2:g.135833148T>C | GRCh38 |
| NC_000002.11:g.136590718T>C , CM000664.1:g.136590718T>C | GRCh37 |
| NC_000002.10:g.136307188T>C | NCBI36 |
| NG_008104.2:g.27022A>G , LRG_338:g.27022A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.683A>G MANE Select | ENSP00000264162.2:p.Glu228Gly | |
| ENST00000264162.6:c.683A>G | ENSP00000264162.2:p.Glu228Gly | |
| NM_002299.2:c.683A>G , LRG_338t1:c.683A>G | NP_002290.2:p.Glu228Gly | |
| NM_002299.3:c.683A>G | NP_002290.2:p.Glu228Gly | |
| XM_017004088.2:c.683A>G | XP_016859577.1:p.Glu228Gly | |
| NM_002299.4:c.683A>G MANE Select | NP_002290.2:p.Glu228Gly |