Linked Data
ClinVar Variation Id:
103248
ClinVar RCV Id:
RCV000089508
dbSNP Id:
rs199475792
gnomAD v2:
11-279056-C-G
gnomAD v3:
11-279056-C-G
gnomAD v4:
11-279056-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.279056C>G , CM000673.2:g.279056C>G | GRCh38 |
| NC_000011.9:g.279056C>G , CM000673.1:g.279056C>G | GRCh37 |
| NC_000011.8:g.269056C>G | NCBI36 |
| NG_050573.1:g.5692C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534750.6:c.30-271C>G MANE Select | ENSP00000433617.1:n.30-271C>G | |
| ENST00000312165.5:c.30-271C>G | ENSP00000309767.4:n.30-271C>G | |
| ENST00000534750.5:c.30-271C>G | ENSP00000433617.1:n.30-271C>G | |
| NM_001276700.1:c.30-271C>G | NP_001263629.1:n.30-271C>G | |
| NM_138329.2:c.30-271C>G | NP_612202.2:n.30-271C>G | |
| XM_011519931.1:c.30-271C>G | XP_011518233.1:n.30-271C>G | |
| XR_930848.1:n.235-271C>G | ||
| XR_002957127.1:n.235-271C>G | ||
| NM_001276700.2:c.30-271C>G MANE Select | NP_001263629.1:n.30-271C>G |