Linked Data
ClinVar Variation Id:
2985464
ClinVar RCV Id:
RCV003848591
dbSNP Id:
rs1258385849
gnomAD v2:
4-186064540-C-G
gnomAD v4:
4-185143386-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143386C>G , CM000666.2:g.185143386C>G | GRCh38 |
| NC_000004.11:g.186064540C>G , CM000666.1:g.186064540C>G | GRCh37 |
| NC_000004.10:g.186301534C>G | NCBI36 |
| NG_013001.1:g.5124C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.14C>G MANE Select | ENSP00000281456.5:p.Ala5Gly | |
| ENST00000281456.10:c.14C>G | ENSP00000281456.5:p.Ala5Gly | |
| ENST00000491736.1:c.14C>G | ENSP00000476711.1:p.Ala5Gly | |
| NM_001151.3:c.14C>G | NP_001142.2:p.Ala5Gly | |
| NM_001151.4:c.14C>G MANE Select | NP_001142.2:p.Ala5Gly |